A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679612



Internal ID10095948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:216225202..216227757hg38UCSC Ensembl
Outerchr2:217089925..217092480hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721456
Supporting Variants
SamplesSSM033
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6679612
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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