A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716157



Internal ID10299793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70163580..70164200hg38UCSC Ensembl
Outerchr17:68159721..68160341hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954019, essv6925031, essv6682250, essv6928537, essv6741649, essv6703205, essv6916808, essv6725207, essv6949843, essv6763828, essv6945766, essv6828408, essv6691988, essv6769057
SamplesSSM024, SSM045, SSM064, SSM039, SSM023, SSM018, SSM062, SSM019, SSM033, SSM016, SSM005, SSM080, SSM025, SSM052
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)esv2716157
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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