A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715948



Internal ID3266444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42337953..42338490hg38UCSC Ensembl
Outerchr17:40489971..40490508hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743532, essv6831970, essv6753039, essv6735607, essv6761819, essv6936935, essv6665831
SamplesSSM007, SSM057, SSM001, SSM029, SSM021, SSM049, SSM081
Known GenesSTAT3
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)esv2715948
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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