A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717142



Internal ID9951431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57024807..57025031hg38UCSC Ensembl
Outerchr18:54692038..54692262hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692281, essv6674456
SamplesSSM036, SSM031
Known GenesWDR7
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)esv2717142
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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