A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607721



Internal ID6994653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178686433..178697302hg38UCSC Ensembl
Innerchr5:178686583..178697152hg38UCSC Ensembl
Outerchr5:178686283..178697452hg38UCSC Ensembl
chr5:178113434..178124303hg19UCSC Ensembl
Innerchr5:178113584..178124153hg19UCSC Ensembl
Outerchr5:178113284..178124453hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810870
hg1910870
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12149111, essv12149110, essv12149112, essv12149113
SamplesNA19648, NA07048, HG01626, HG00128
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607721
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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