A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663368



Internal ID9582787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54716817..54828467hg38UCSC Ensembl
Outerchr19:54716446..54828837hg38UCSC Ensembl
Innerchr19:55228316..55339922hg19UCSC Ensembl
Outerchr19:55227945..55340292hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38112392
hg19112348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv667e199
Supporting Variantsessv6510894, essv6005109, essv5880258, essv6233301, essv6558716, essv6060495, essv6566375, essv5613349, essv5923199, essv6008762, essv5476765, essv6056418, essv5724253, essv5405776, essv5543681, essv5463516, essv6281566, essv6594072, essv5552985, essv6221820, essv5731318, essv5791574, essv5543280, essv6282569, essv5950253, essv5654378, essv5436977, essv5687411, essv6368245, essv5681849, essv6233683, essv5747133, essv5793548, essv5964660, essv5852468, essv6335100, essv6077595, essv6349989, essv6194895, essv6026922, essv6152737, essv6024016, essv5783188, essv5600026, essv6327095, essv5867483, essv6359866, essv5486696, essv6205079, essv6500447, essv5986996, essv6222969, essv5976828, essv6392385, essv6511226, essv6006804, essv6296718, essv5960755, essv5781491
SamplesNA18502, NA19204, NA18508, NA18917, NA18486, NA18504, NA19098, NA18870, NA18510, NA19107, NA19171, NA18489, NA19119, NA19131, NA18916, NA19197, NA19138, NA18498, NA18868, NA19137, NA19235, NA19207, NA19172, NA19159, NA18520, NA19209, NA18908, NA19200, NA18934, NA19152, NA18933, NA19236, NA18516, NA18910, NA18871, NA18907, NA19114, NA18499, NA18856, NA18912, NA18853, NA19099, NA19257, NA18523, NA19160, NA18858, NA18909, NA19108, NA19147, NA18517, NA19144, NA19248, NA18873, NA19116, NA18505, NA19129, NA18511, NA18522, NA19153
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, KIR3DL3, LOC100287534
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663368
Frequency
Sample Size1151
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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