A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12026242



Internal ID6647876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115067543..115073657hg38UCSC Ensembl
Innerchr5:115067543..115073657hg38UCSC Ensembl
Outerchr5:115067487..115073716hg38UCSC Ensembl
chr5:114403240..114409354hg19UCSC Ensembl
Innerchr5:114403240..114409354hg19UCSC Ensembl
Outerchr5:114403184..114409413hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg386115
hg196115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606358
Supporting Variants
SamplesNA20801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12026242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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