A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715919



Internal ID9950206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41167625..41168199hg38UCSC Ensembl
Outerchr17:39323877..39324451hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38575
hg19575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796747, essv6920941, essv6756062, essv6877186, essv6843172, essv6895260, essv6874161, essv6780134, essv6706828, essv6839319, essv6905552, essv6682222, essv6971561, essv6839531, essv6966916, essv6710051, essv6753036, essv6852275, essv6728974, essv6674269
SamplesSSM083, SSM071, SSM027, SSM046, SSM013, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM017, SSM031, SSM067, SSM086, SSM033, SSM040, SSM010, SSM091, SSM098
Known GenesKRTAP4-3
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)esv2715919
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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