A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715050



Internal ID9949335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88828775..88829293hg38UCSC Ensembl
Outerchr16:88895183..88895701hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784219, essv6772688, essv6858128, essv6824230, essv6780051, essv6920843, essv6843082, essv6792486
SamplesSSM065, SSM084, SSM067, SSM017, SSM087, SSM079, SSM068, SSM070
Known GenesGALNS
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)esv2715050
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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