A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717141



Internal ID9951430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57024331..57024941hg38UCSC Ensembl
Outerchr18:54691562..54692172hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv456e201
Supporting Variantsessv6674455, essv6682350, essv6792713, essv6888639
SamplesSSM096, SSM031, SSM033, SSM070
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)esv2717141
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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