A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758675



Internal ID18732921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108961881..108971223hg38UCSC Ensembl
Outerchr2:108960290..108973044hg38UCSC Ensembl
Innerchr2:109578337..109587679hg19UCSC Ensembl
Outerchr2:109576746..109589500hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg3812755
hg1912755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3559928
Supporting Variants
Samples
Known GenesEDAR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758675
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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