A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6895397



Internal ID9942652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76792650..76792885hg38UCSC Ensembl
Outerchr18:74504606..74504841hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717417, esv2717416, esv2717388
Supporting Variants
SamplesSSM098
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)essv6895397
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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