A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607609



Internal ID6994541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173171190..173174430hg38UCSC Ensembl
Innerchr5:173171190..173174430hg38UCSC Ensembl
Outerchr5:173170777..173174569hg38UCSC Ensembl
chr5:172598193..172601433hg19UCSC Ensembl
Innerchr5:172598193..172601433hg19UCSC Ensembl
Outerchr5:172597780..172601572hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg383241
hg193241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134146
SamplesNA19449
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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