A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607460



Internal ID6994394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:163745092..163756835hg38UCSC Ensembl
Innerchr5:163745105..163756822hg38UCSC Ensembl
Outerchr5:163745079..163756848hg38UCSC Ensembl
chr5:163172098..163183841hg19UCSC Ensembl
Innerchr5:163172111..163183828hg19UCSC Ensembl
Outerchr5:163172085..163183854hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3811744
hg1911744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12123157, essv12123155, essv12123156, essv12123150, essv12123149, essv12123153, essv12123152, essv12123158, essv12123151, essv12123148, essv12123154
SamplesHG03559, HG02852, NA20356, HG02952, HG01064, HG01889, NA19206, NA19143, HG02938, NA20289, NA18876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607460
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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