A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6801973



Internal ID10206803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239547058..239547210hg38UCSC Ensembl
Outerchr2:240468752..240468904hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721838, esv2721837
Supporting Variants
SamplesSSM073
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)essv6801973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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