A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10612314



Internal ID6421809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108961957..108970510hg38UCSC Ensembl
Innerchr2:108961957..108970510hg38UCSC Ensembl
Outerchr2:108961457..108971010hg38UCSC Ensembl
chr2:109578413..109586966hg19UCSC Ensembl
Innerchr2:109578413..109586966hg19UCSC Ensembl
Outerchr2:109577913..109587466hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg388554
hg198554
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591935
Supporting Variants
SamplesNA20502
Known GenesEDAR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10612314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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