A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10859427



Internal ID2451502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220685722..220689677hg38UCSC Ensembl
Innerchr2:220685760..220689640hg38UCSC Ensembl
Outerchr2:220685685..220689715hg38UCSC Ensembl
chr2:221550442..221554397hg19UCSC Ensembl
Innerchr2:221550480..221554360hg19UCSC Ensembl
Outerchr2:221550405..221554435hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg383956
hg193956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594387
Supporting Variants
SamplesHG02155
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10859427
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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