A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665746



Internal ID9585166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:912316..932322hg38UCSC Ensembl
Outerchr19:911945..932692hg38UCSC Ensembl
Innerchr19:912316..932322hg19UCSC Ensembl
Outerchr19:911945..932692hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820748
hg1920748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726558, essv5783509, essv6372266, essv6547750, essv5653733, essv5570566, essv5650516, essv5642243, essv6305954, essv6021407, essv5476752, essv5447611, essv6210347, essv6583100, essv6487478, essv6087540, essv6377168, essv5396081, essv6229136, essv6339729, essv5451737, essv6275886, essv5864514, essv5700656, essv5985975, essv6511295, essv6548135, essv6172858, essv5531503, essv6032135, essv5404096, essv6376034, essv5992874, essv5408255, essv5827646, essv5398469, essv6434555, essv6112819, essv6314238, essv6327241, essv5835066, essv6140333, essv6414671, essv5698381, essv6067113, essv5610133, essv6538022, essv6386147, essv5874343, essv5413031, essv6561858, essv5741047, essv5846529, essv5410741, essv5788809, essv6413507, essv6411666, essv5505311, essv6476358, essv6472825, essv6011101, essv6071812, essv6258036, essv5876388, essv5919996, essv5796006, essv5841976, essv5456497, essv5801222, essv5863433, essv5740441
SamplesHG00626, HG00403, HG00542, HG00442, HG00536, HG00671, HG00524, HG00699, HG00449, HG00654, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00475, HG00436, HG00556, HG00533, HG00619, HG00708, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00614, HG00513, HG00578, HG00478, HG00421, HG00698, HG00472, HG00628, HG00437, HG00581
Known GenesARID3A, KISS1R, R3HDM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665746
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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