A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111024



Internal ID5661030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157078357..157082145hg38UCSC Ensembl
Innerchr5:157078379..157082124hg38UCSC Ensembl
Outerchr5:157078336..157082167hg38UCSC Ensembl
chr5:156505368..156509156hg19UCSC Ensembl
Innerchr5:156505390..156509135hg19UCSC Ensembl
Outerchr5:156505347..156509178hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg383789
hg193789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607309
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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