A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9753458



Internal ID18381018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33556237..33556505hg38UCSC Ensembl
Outerchr2:33556187..33556574hg38UCSC Ensembl
Innerchr2:33781304..33781572hg19UCSC Ensembl
Outerchr2:33781254..33781641hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3554711
Supporting Variants
Samples
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9753458
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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