A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517687



Internal ID978190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58461689..58464189hg38UCSC Ensembl
Innerchr2:58461689..58464189hg38UCSC Ensembl
Outerchr2:58461525..58464395hg38UCSC Ensembl
chr2:58688824..58691324hg19UCSC Ensembl
Innerchr2:58688824..58691324hg19UCSC Ensembl
Outerchr2:58688660..58691530hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590961
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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