A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679613



Internal ID10095949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218035519..218069801hg38UCSC Ensembl
Outerchr2:218900242..218934524hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3834283
hg1934283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721477
Supporting Variants
SamplesSSM033
Known GenesCXCR2P1, RUFY4
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)essv6679613
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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