A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602031



Internal ID6642285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122712761..122714251hg38UCSC Ensembl
Innerchr4:122712761..122714251hg38UCSC Ensembl
Outerchr4:122712455..122714510hg38UCSC Ensembl
chr4:123633916..123635406hg19UCSC Ensembl
Innerchr4:123633916..123635406hg19UCSC Ensembl
Outerchr4:123633610..123635665hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11590832, essv11590834, essv11590833
SamplesHG00108, NA20582, HG01914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602031
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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