A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713937



Internal ID10297573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8564206..8564929hg38UCSC Ensembl
Outerchr16:8614208..8614931hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv329e201
Supporting Variantsessv6888358, essv6691987, essv6688663, essv6851970, essv6869976, essv6960096, essv6800722, essv6928316, essv6828183, essv6809749, essv6699068, essv6916550, essv6916552, essv6824095, essv6784051, essv6867759, essv6851969, essv6885383, essv6724938, essv6678294, essv6909341, essv6788252, essv6882680
SamplesSSM036, SSM075, SSM045, SSM011, SSM079, SSM038, SSM069, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM014, SSM086, SSM068, SSM072, SSM016, SSM080, SSM095
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)esv2713937
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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