A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678258



Internal ID9597677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55392548..55396554hg38UCSC Ensembl
Outerchr19:55392177..55396924hg38UCSC Ensembl
Innerchr19:55903916..55907922hg19UCSC Ensembl
Outerchr19:55903545..55908292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6078085, essv5968710, essv6329905, essv5631901, essv6136745, essv6066866, essv6371129, essv5473878, essv6055057, essv6436766, essv5946566, essv6167482, essv6297786, essv5457692, essv5621254, essv6574862, essv6212687, essv5778823, essv6592509, essv5875319, essv6456567, essv6140429, essv6544225, essv6059312, essv6291476, essv5668480, essv5443783, essv6050070, essv5737305, essv6459909, essv6245356, essv6061357, essv5512460, essv5875321, essv6027525, essv5551622, essv5675332, essv6081330, essv6210228, essv6094285, essv5542886, essv5644410, essv5564407, essv6536987, essv6325089, essv6247245, essv6106644, essv5879314, essv6111989, essv6364690, essv6116724, essv5774999, essv6112193, essv5722066
SamplesHG00626, HG00403, HG00650, HG00536, HG00608, HG00524, HG00699, HG00449, HG00654, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00512, HG00683, HG00534, HG00705, HG00427, HG00530, HG00543, HG00629, HG00443, HG00557, HG00428, HG00653, HG00500, HG00619, HG00708, HG00635, HG00651, HG00690, HG00404, HG00684, HG00613, HG00704, HG00611, HG00476, HG00625, HG00580, HG00607, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00656, HG00698, HG00628
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678258
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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