A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675149



Internal ID9594568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3970818..3974524hg38UCSC Ensembl
Outerchr19:3970447..3974894hg38UCSC Ensembl
Innerchr19:3970816..3974522hg19UCSC Ensembl
Outerchr19:3970445..3974892hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6345549, essv5434893, essv6167348, essv6554900, essv5780348, essv6462795, essv5954927, essv5556164, essv6013146, essv6265212, essv6292216, essv5512449, essv6444092, essv5515081, essv6240748, essv5942328, essv6422396, essv5792298, essv5425773, essv6195593, essv5880901, essv6095168, essv5554867, essv6130425, essv6208267, essv5528957, essv6421191, essv5693930, essv5659719, essv6321433, essv6219085, essv6597653, essv5575232, essv5641841, essv5653694, essv6583422, essv5846088, essv5706273, essv6242078, essv5538924, essv6093368, essv5690093, essv5882579, essv5493485, essv6425040, essv6020111, essv6381963, essv6487682, essv6438762, essv6502470, essv6352073, essv6569488, essv6002252, essv5911995, essv5983215, essv5946693, essv6025203, essv5786167, essv5399507, essv5926044, essv6163919, essv6214731, essv5919232, essv5538017, essv6217768, essv6120202, essv6549837, essv6222631, essv5740618, essv5777757, essv6498007, essv6041511, essv5511376, essv5958244, essv6351708, essv5651292, essv6552455, essv5944779, essv6094635
SamplesHG00593, HG00626, HG00403, HG00650, HG00542, HG00592, HG00536, HG00671, HG00559, HG00524, HG00699, HG00449, HG00654, HG00663, HG00589, HG00501, HG00702, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00557, HG00428, HG00653, HG00701, HG00475, HG00556, HG00584, HG00533, HG00583, HG00500, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675149
Frequency
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0
Frequencyn/a


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