A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715924



Internal ID10299560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41233663..41255952hg38UCSC Ensembl
Outerchr17:39389915..39412204hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3822290
hg1922290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv413e201
Supporting Variantsessv6839542, essv6778077, essv6743499, essv6668552, essv6741626, essv6898125, essv6820463, essv6674270, essv6761486, essv6665826, essv6735604, essv6816032, essv6867995, essv6725173, essv6747304, essv6766151, essv6867996, essv6758668, essv6858252, essv6960434, essv6852278, essv6715043
SamplesSSM059, SSM008, SSM045, SSM087, SSM029, SSM026, SSM089, SSM031, SSM001, SSM086, SSM006, SSM007, SSM078, SSM077, SSM010, SSM055, SSM099, SSM052, SSM049, SSM030, SSM063
Known GenesKRTAP9-4, KRTAP9-8, KRTAP9-9
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)esv2715924
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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