A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715998



Internal ID10299634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47157111..47157229hg38UCSC Ensembl
Outerchr17:45234477..45234595hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv421e201
Supporting Variantsessv6852296, essv6858272, essv6960452
SamplesSSM087, SSM026, SSM086
Known GenesCDC27
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)esv2715998
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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