A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785347



Internal ID9843608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70936923..70937311hg38UCSC Ensembl
Outerchr2:71164053..71164441hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720180, esv2720179
Supporting Variants
SamplesSSM069
Known GenesATP6V1B1
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)essv6785347
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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