A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953884



Internal ID9991832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220823417..220823863hg38UCSC Ensembl
Outerchr2:221688137..221688583hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721502
Supporting Variants
SamplesSSM004
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)essv6953884
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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