A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132669



Internal ID2134485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172099760..172100097hg38UCSC Ensembl
Innerchr5:172099771..172100087hg38UCSC Ensembl
Outerchr5:172099750..172100108hg38UCSC Ensembl
chr5:171526764..171527101hg19UCSC Ensembl
Innerchr5:171526775..171527091hg19UCSC Ensembl
Outerchr5:171526754..171527112hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607588
Supporting Variants
SamplesNA19717
Known GenesSTK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132669
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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