A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714812



Internal ID9949097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:83774880..83775455hg38UCSC Ensembl
Outerchr16:83808485..83809060hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867890, essv6916688, essv6824219, essv6744408, essv6665626, essv6780023, essv6912107
SamplesSSM053, SSM089, SSM016, SSM067, SSM029, SSM002, SSM079
Known GenesCDH13
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)esv2714812
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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