A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853626



Internal ID10251746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:6935619..6935709hg38UCSC Ensembl
Outerchr2:7075750..7075840hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719595, esv2719597
Supporting Variants
SamplesSSM087
Known GenesRNF144A
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)essv6853626
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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