A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717389



Internal ID9951679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76356902..76357700hg38UCSC Ensembl
Outerchr18:74068857..74069655hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877302, essv6717658, essv6954141, essv6747416, essv6858482, essv6788635, essv6750252, essv6756178, essv6776495
SamplesSSM087, SSM058, SSM092, SSM069, SSM066, SSM055, SSM025, SSM043, SSM056
Known GenesZNF516
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)esv2717389
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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