A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732286



Internal ID10315922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73210758..73243312hg38UCSC Ensembl
Outerchr6:73920481..73953035hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3832555
hg1932555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865640, essv6893487, essv6798908, essv6679121, essv6778244, essv6845001, essv6837472, essv6957706, essv6875773, essv6903764, essv6761387, essv6926857, essv6671165, essv6676618, essv6930481, essv6899743, essv6711888, essv6860919
SamplesSSM100, SSM008, SSM083, SSM013, SSM042, SSM088, SSM002, SSM092, SSM089, SSM019, SSM032, SSM031, SSM067, SSM001, SSM085, SSM072, SSM020, SSM005
Known GenesKHDC1, KHDC1L
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)esv2732286
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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