A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715915



Internal ID10299551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41081238..41107303hg38UCSC Ensembl
Outerchr17:39237490..39263555hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3826066
hg1926066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871225, essv6678511, essv6871223, essv6678509, essv6852274, essv6668550, essv6863188, essv6867993, essv6888545, essv6852273, essv6816029, essv6668549, essv6867994, essv6811432, essv6728973, essv6871224, essv6909506, essv6863189, essv6824305, essv6758667, essv6715031, essv6835536, essv6888542, essv6812707
SamplesSSM059, SSM046, SSM079, SSM009, SSM088, SSM090, SSM096, SSM089, SSM032, SSM014, SSM086, SSM006, SSM082, SSM077, SSM076, SSM030
Known GenesKRTAP4-7, KRTAP4-8, KRTAP4-9
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)esv2715915
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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