A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607647



Internal ID6994579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:175355520..175356255hg38UCSC Ensembl
Innerchr5:175355570..175356205hg38UCSC Ensembl
Outerchr5:175355460..175356315hg38UCSC Ensembl
chr5:174782523..174783258hg19UCSC Ensembl
Innerchr5:174782573..174783208hg19UCSC Ensembl
Outerchr5:174782463..174783318hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12137122, essv12137125, essv12137128, essv12137123, essv12137121, essv12137126, essv12137131, essv12137129, essv12137132, essv12137130, essv12137127, essv12137124
SamplesHG03926, HG04156, HG03943, HG03594, HG03711, NA20876, HG03660, HG03969, HG03838, HG03716, HG03684, NA21091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607647
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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