A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714952



Internal ID9949237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87998331..87998661hg38UCSC Ensembl
Outerchr16:88031937..88032267hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936821, essv6780036, essv6949723, essv6788384, essv6953882, essv6924923, essv6800880
SamplesSSM025, SSM072, SSM024, SSM067, SSM069, SSM021, SSM018
Known GenesBANP
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)esv2714952
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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