A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716574



Internal ID10300210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82976158..82976907hg38UCSC Ensembl
Outerchr17:80934034..80934783hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753088, essv6945118, essv6811977, essv6750179, essv6765709, essv6967020, essv6868074, essv6778766
SamplesSSM008, SSM027, SSM009, SSM057, SSM089, SSM003, SSM001, SSM056
Known GenesB3GNTL1
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)esv2716574
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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