A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847421



Internal ID9899475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2644986..2645064hg38UCSC Ensembl
Outerchr2:2648758..2648836hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719418, esv2719419
Supporting Variants
SamplesSSM086
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)essv6847421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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