A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660894



Internal ID9926999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1854817..1872323hg38UCSC Ensembl
Outerchr19:1854446..1872693hg38UCSC Ensembl
Innerchr19:1854816..1872322hg19UCSC Ensembl
Outerchr19:1854445..1872692hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3818248
hg1918248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5634787, essv6564359, essv6175360, essv6186183, essv6201061, essv5743080, essv6166878, essv6522635, essv6180971, essv5572286, essv6036740, essv5880724, essv6028329, essv5574333, essv6011369, essv6583232, essv6461057, essv5768647, essv6496894, essv5921554, essv6276092, essv5916829, essv5774807, essv5849593, essv6382085, essv6460230, essv6075047
SamplesHG01060, HG01098, HG01052, HG01188, HG00737, HG01051, HG01070, HG01168, HG01083, HG01069, HG01170, HG01176, HG01198, HG01183, HG01187, HG01171, HG01102, HG01197, HG01182, HG01101, HG01107, HG01204, HG01075, HG01190, HG01082, HG01191, HG01061
Known GenesKLF16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660894
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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