A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12142443



Internal ID3422943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176987145..176998385hg38UCSC Ensembl
Innerchr5:176987195..176998335hg38UCSC Ensembl
Outerchr5:176987041..176998489hg38UCSC Ensembl
chr5:176414146..176425386hg19UCSC Ensembl
Innerchr5:176414196..176425336hg19UCSC Ensembl
Outerchr5:176414042..176425490hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3811241
hg1911241
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607678
Supporting Variants
SamplesHG03060
Known GenesUIMC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12142443
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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