A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673205



Internal ID9592624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7599050..7603729hg38UCSC Ensembl
chr19:7663936..7668615hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384680
hg194680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6250034, essv5605389, essv6194892, essv5961803, essv6230061, essv5787358, essv6430725, essv5922134, essv6124059, essv5577107, essv5529452, essv6032520, essv6218222, essv5852737, essv6241503, essv5585603, essv5468389, essv6137987, essv5705793, essv5582916, essv6296052, essv5603999, essv6345504, essv5534485, essv5970420, essv6562107, essv6418729, essv6012138, essv5828270, essv5939680, essv6529163, essv6404752, essv5631634, essv6163525, essv6211198, essv5414232, essv6577602, essv6516236, essv5951761, essv5648968, essv6578561, essv6105430, essv5483027, essv5922372, essv6434562, essv5946592, essv5441581, essv5632717, essv5622284, essv5476152, essv6120099, essv6395577, essv6071258, essv5865378, essv5911842, essv6403815, essv6214623, essv5761072, essv5554871, essv6361411, essv6285797, essv6208063, essv6516087, essv5696654, essv6477750, essv6105957, essv6123154, essv5847023, essv5682308, essv6115330, essv5432818, essv6027047, essv6117475, essv6532039, essv5863869, essv6175192, essv5663754, essv5475025, essv6172012, essv6514306, essv5543844, essv6339663, essv6304072, essv6131865, essv5704054, essv5951777, essv5577953, essv5696850, essv6149530, essv5484366, essv5751760, essv6139312, essv6256681, essv6364186, essv6225454, essv5842617, essv6504179, essv5541452, essv6232503, essv6577187, essv6223911, essv5585874, essv6168221, essv6412631, essv5929947, essv5978297, essv5696320, essv5748405, essv6012084, essv6371869, essv5465390, essv5696035, essv6446024, essv6055086, essv5583334, essv5533160, essv6468695, essv6041149, essv5780188, essv6042221, essv5706611, essv5632079, essv6450529, essv6051769, essv5768368, essv5727885, essv5886064, essv5840820, essv6263605, essv5663441, essv6393505, essv5543325, essv6068108, essv6066522, essv5570740, essv5712492, essv5934924, essv6558507, essv5677447, essv6309374, essv6407674, essv6447169, essv6347314, essv5753267, essv5624412, essv6068443, essv6592908, essv6228342, essv6246777, essv6529518, essv5687640, essv6504333, essv6464956, essv6568301, essv5953209
SamplesHG00323, HG00613, HG00309, HG00313, HG00537, HG00318, HG00536, HG00607, HG00182, HG00619, HG00344, HG00418, HG00328, HG00705, HG00437, HG00500, HG00171, HG00274, HG00186, HG00464, HG00596, HG00565, HG00449, HG00310, HG00707, HG00463, HG00657, HG00614, HG00189, HG00577, HG00428, HG00475, HG00375, HG00542, HG00368, HG00173, HG00326, HG00190, HG00701, HG00683, HG00698, HG00334, HG00581, HG00187, HG00404, HG00651, HG00280, HG00335, HG00557, HG00366, HG00578, HG00177, HG00331, HG00319, HG00699, HG00188, HG00353, HG00479, HG00269, HG00342, HG00266, HG00635, HG00543, HG00321, HG00339, HG00556, HG00346, HG00179, HG00472, HG00421, HG00583, HG00337, HG00610, HG00372, HG00692, HG00689, HG00315, HG00330, HG00338, HG00533, HG00178, HG00419, HG00174, HG00634, HG00276, HG00284, HG00343, HG00584, HG00662, HG00373, HG00436, HG00267, HG00620, HG00653, HG00268, HG00325, HG00629, HG00185, HG00560, HG00501, HG00672, HG00273, HG00282, HG00478, HG00277, HG00513, HG00524, HG00329, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00181, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00281, HG00285, HG00656, HG00422, HG00708, HG00367, HG00693, HG00320, HG00275, HG00324, HG00625, HG00690, HG00183, HG00442, HG00473, HG00626, HG00684, HG00336, HG00476, HG00671, HG00272, HG00345, HG00702, HG00704, HG00271, HG00278, HG00531, HG00312, HG00327, HG00361
Known GenesCAMSAP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673205
Frequency
Sample Size1151
Observed Gain0
Observed Loss155
Observed Complex0
Frequencyn/a


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