A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731921



Internal ID10315557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36687597..36691442hg38UCSC Ensembl
Outerchr6:36655374..36659219hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383846
hg193846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743179
SamplesSSM053
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)esv2731921
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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