A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677290



Internal ID9596709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14089504..14092910hg38UCSC Ensembl
Outerchr19:14089133..14093280hg38UCSC Ensembl
Innerchr19:14200316..14203722hg19UCSC Ensembl
Outerchr19:14199945..14204092hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg384148
hg194148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6000954, essv5430281, essv6487361, essv6090388, essv5841194, essv5601194, essv6035273, essv6014630, essv6114167, essv5939092, essv5900565, essv6082943, essv5973541, essv6389601, essv5986550, essv6345638, essv5547328, essv5785918, essv5580934, essv6269813, essv6411669, essv6272208, essv5875257, essv5851434, essv6206186, essv5892565, essv5548747, essv6296760, essv6041799, essv6276350, essv6076028, essv6096041, essv6482308, essv6049336, essv5807304, essv5804153, essv6440576, essv5606639, essv5429428, essv6278900, essv5961877, essv5896349, essv6548929, essv6198055, essv5960427, essv6578938, essv6083587, essv5458585, essv6396948, essv6300389, essv6410754, essv6119345, essv5947231, essv5894495, essv6353785, essv5553438, essv6310338, essv6273481, essv5700820, essv5918975, essv5813449, essv5849815, essv5998910, essv5986074, essv5408308, essv6363564, essv6102156, essv5729307, essv6087710, essv6350788, essv6398295, essv6331882, essv6152083, essv5554675, essv6027293, essv5470690, essv5418105, essv5674271, essv5887843, essv6329523, essv6079636, essv6410629, essv6398690, essv6124125, essv5470221, essv6417972
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00635, HG00543, HG00556, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00566, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesPRKACA, SAMD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677290
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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