A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679462



Internal ID10095814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23348191..23348363hg38UCSC Ensembl
Outerchr2:23571062..23571234hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719811
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)essv6679462
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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