A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134146



Internal ID6053578
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607609
Supporting Variants
SamplesNA19449
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134146
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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