A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759905



Internal ID18734151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232660444..232661811hg38UCSC Ensembl
Outerchr2:232660339..232661902hg38UCSC Ensembl
Innerchr2:233525154..233526521hg19UCSC Ensembl
Outerchr2:233525049..233526612hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381564
hg191564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3561158
Supporting Variants
Samples
Known GenesEFHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759905
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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