A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692281



Internal ID9758877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57024813..57025031hg38UCSC Ensembl
Outerchr18:54692044..54692262hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717142
Supporting Variants
SamplesSSM036
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)essv6692281
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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