A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600537



Internal ID6987579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54203718..54205998hg38UCSC Ensembl
Innerchr4:54203718..54205998hg38UCSC Ensembl
Outerchr4:54203514..54206142hg38UCSC Ensembl
chr4:55069885..55072165hg19UCSC Ensembl
Innerchr4:55069885..55072165hg19UCSC Ensembl
Outerchr4:55069681..55072309hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg382281
hg192281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438348, essv11438354, essv11438361, essv11438340, essv11438352, essv11438351, essv11438350, essv11438355, essv11438364, essv11438338, essv11438349, essv11438339, essv11438346, essv11438347, essv11438353, essv11438343, essv11438362, essv11438358, essv11438357, essv11438341, essv11438363, essv11438365, essv11438344, essv11438345, essv11438337, essv11438359, essv11438342, essv11438360, essv11438356
SamplesNA11830, NA20508, HG03767, NA20752, HG00318, NA19777, HG00109, NA20586, NA19307, HG03604, HG04182, HG02655, HG00311, NA06984, NA20812, HG04238, NA19725, HG03908, HG03760, HG01684, HG01119, HG02789, HG01204, NA18646, HG02790, HG02235, HG04098, NA12006, NA20511
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600537
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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