A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715472



Internal ID9949758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1572813..1588114hg38UCSC Ensembl
Outerchr17:1476107..1491408hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3815302
hg1915302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839288, essv6812674, essv6891799, essv6867942, essv6688804, essv6871197, essv6909472, essv6824267, essv6678477
SamplesSSM083, SSM079, SSM097, SSM090, SSM089, SSM035, SSM032, SSM014, SSM076
Known GenesSLC43A2
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)esv2715472
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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