A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971725



Internal ID9726929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78230328..78230858hg38UCSC Ensembl
Outerchr18:75990328..75990858hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717497, esv2717498
Supporting Variants
SamplesSSM028
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)essv6971725
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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