A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12043602



Internal ID2946191
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606602
Supporting Variants
SamplesHG02603
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12043602
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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