A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715617



Internal ID10299253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8692559..8692850hg38UCSC Ensembl
Outerchr17:8595877..8596168hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710025, essv6750097, essv6721336, essv6665763, essv6901097, essv6728937, essv6932581, essv6725137, essv6913264, essv6953956, essv6920897, essv6936897, essv6835506, essv6831937, essv6732803, essv6713575
SamplesSSM100, SSM045, SSM046, SSM042, SSM041, SSM021, SSM047, SSM029, SSM017, SSM044, SSM081, SSM082, SSM020, SSM015, SSM025, SSM056
Known Genes
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)esv2715617
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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