A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714212



Internal ID10297848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:32512911..32513466hg38UCSC Ensembl
Outerchr16:32524232..32524787hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852014, essv6975484, essv6901002, essv6820294, essv6920748, essv6690587, essv6949608, essv6909360, essv6779951
SamplesSSM100, SSM024, SSM017, SSM067, SSM014, SSM086, SSM078, SSM005, SSM004
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)esv2714212
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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