A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606602



Internal ID6993537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123255527..123257804hg38UCSC Ensembl
Innerchr5:123255577..123257754hg38UCSC Ensembl
Outerchr5:123255477..123257854hg38UCSC Ensembl
chr5:122591221..122593498hg19UCSC Ensembl
Innerchr5:122591271..122593448hg19UCSC Ensembl
Outerchr5:122591171..122593548hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg382278
hg192278
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12043602, essv12043603
SamplesNA18988, HG02603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606602
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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