A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658944



Internal ID9578363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:585716..591422hg38UCSC Ensembl
Outerchr19:585345..591792hg38UCSC Ensembl
Innerchr19:585716..591422hg19UCSC Ensembl
Outerchr19:585345..591792hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386448
hg196448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6493182, essv6004388, essv6331134, essv5992917, essv6111635, essv5408825, essv5902141, essv5559155, essv5606851, essv6195855, essv5527556, essv6172919, essv6350212, essv6263969, essv5412807, essv5468205, essv5496561, essv5902974, essv5750492, essv6174704, essv6051453, essv5477267, essv5962942, essv5501869, essv5572209, essv5449845, essv5509334, essv5536851, essv5999515, essv6248863, essv6189861, essv5552672, essv5774842, essv5776327, essv5779956, essv6093886, essv6538957, essv6501237, essv5891952, essv5738390, essv6339405, essv5426696, essv5954044, essv6054493, essv6339292, essv5896568, essv5867910, essv6136189, essv6152378, essv6589447, essv5966496, essv6229402, essv6363090, essv6017492, essv6370573, essv6428484, essv5424808, essv6083328, essv5657897, essv5517142, essv5718471, essv6379503, essv5508124, essv5918301, essv6334452, essv5667438, essv5947050, essv6239088, essv6475454, essv5636186, essv6271643, essv5776593, essv6227442
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00596, HG00707, HG00463, HG00657, HG00614, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00479, HG00543, HG00556, HG00472, HG00583, HG00610, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00530, HG00422, HG00708, HG00693, HG00566, HG00625, HG00690, HG00473, HG00626, HG00684, HG00476, HG00702, HG00704, HG00531
Known GenesHCN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658944
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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