A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941260



Internal ID9702542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78430809..78431066hg38UCSC Ensembl
Outerchr18:76190809..76191066hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717524, esv2717525, esv2717497, esv2717527, esv2717526
Supporting Variants
SamplesSSM022
Known Genes
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)essv6941260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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