A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12150322



Internal ID5395640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179039037..179046737hg38UCSC Ensembl
Innerchr5:179039087..179046687hg38UCSC Ensembl
Outerchr5:179038987..179046787hg38UCSC Ensembl
chr5:178466038..178473738hg19UCSC Ensembl
Innerchr5:178466088..178473688hg19UCSC Ensembl
Outerchr5:178465988..178473788hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607734
Supporting Variants
SamplesNA18941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12150322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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