A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607310



Internal ID6994244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157111057..157113493hg38UCSC Ensembl
Innerchr5:157111057..157113493hg38UCSC Ensembl
Outerchr5:157110800..157113796hg38UCSC Ensembl
chr5:156538068..156540504hg19UCSC Ensembl
Innerchr5:156538068..156540504hg19UCSC Ensembl
Outerchr5:156537811..156540807hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382437
hg192437
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12111045, essv12111044, essv12111036, essv12111032, essv12111031, essv12111043, essv12111030, essv12111038, essv12111037, essv12111034, essv12111026, essv12111040, essv12111027, essv12111033, essv12111025, essv12111041, essv12111028, essv12111039, essv12111035, essv12111042, essv12111029
SamplesHG02890, NA18861, HG03163, HG03247, NA19377, NA19448, NA19138, HG01365, NA19130, HG03212, HG03369, HG02582, NA19327, NA19452, NA19019, NA19144, NA19323, NA19468, NA18511, NA18522, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607310
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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