A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972912



Internal ID10078535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:56519271..56520018hg38UCSC Ensembl
Outerchr2:56746406..56747153hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720098, esv2720097
Supporting Variants
SamplesSSM029
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)essv6972912
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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