A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715820



Internal ID10299456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31658659..31659545hg38UCSC Ensembl
Outerchr17:29985678..29986564hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867984, essv6665808, essv6877178, essv6828369, essv6839442, essv6971549, essv6777944, essv6945722, essv6913297, essv6901925, essv6863177, essv6685629, essv6784285
SamplesSSM008, SSM088, SSM023, SSM028, SSM092, SSM029, SSM089, SSM068, SSM015, SSM080, SSM010, SSM034, SSM012
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)esv2715820
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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