A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607513



Internal ID6647753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166998807..167006548hg38UCSC Ensembl
Innerchr5:166998807..167006548hg38UCSC Ensembl
Outerchr5:166998521..167006825hg38UCSC Ensembl
chr5:166425812..166433553hg19UCSC Ensembl
Innerchr5:166425812..166433553hg19UCSC Ensembl
Outerchr5:166425526..166433830hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387742
hg197742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12125271, essv12125273, essv12125272
SamplesHG04202, HG04019, HG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607513
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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