A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731993



Internal ID10315629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:43293739..43294602hg38UCSC Ensembl
Outerchr6:43261477..43262340hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6947810, essv6711853, essv6957019, essv6887022, essv6690474, essv6837443, essv6934735, essv6963745, essv6915089, essv6701091
SamplesSSM036, SSM083, SSM027, SSM024, SSM039, SSM042, SSM021, SSM096, SSM026, SSM016
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)esv2731993
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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