A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134536



Internal ID2018921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173460786..173461273hg38UCSC Ensembl
Innerchr5:173460794..173461266hg38UCSC Ensembl
Outerchr5:173460779..173461281hg38UCSC Ensembl
chr5:172887789..172888276hg19UCSC Ensembl
Innerchr5:172887797..172888269hg19UCSC Ensembl
Outerchr5:172887782..172888284hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607616
Supporting Variants
SamplesHG01860
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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