A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613195



Internal ID7000093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:53392828..53534517hg38UCSC Ensembl
chr7:53460521..53602210hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38141690
hg19141690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12778358, essv12778359, essv12778356, essv12778357, essv12778360, essv12778354, essv12778352, essv12778353, essv12778355
SamplesNA20846, HG04042, NA20859, HG02649, HG03898, HG03899, HG01491, HG03733, HG03882
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613195
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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