A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9758757



Internal ID18386317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:118092822..118093502hg38UCSC Ensembl
Outerchr2:118092703..118093664hg38UCSC Ensembl
Innerchr2:118850398..118851078hg19UCSC Ensembl
Outerchr2:118850279..118851240hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38962
hg19962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560010
Supporting Variants
Samples
Known GenesINSIG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9758757
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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