A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607586



Internal ID6647826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172068105..172068760hg38UCSC Ensembl
Innerchr5:172068105..172068760hg38UCSC Ensembl
Outerchr5:172068053..172068804hg38UCSC Ensembl
chr5:171495109..171495764hg19UCSC Ensembl
Innerchr5:171495109..171495764hg19UCSC Ensembl
Outerchr5:171495057..171495808hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38656
hg19656
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12132666
SamplesNA20757
Known GenesSTK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607586
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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