A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710197



Internal ID9773995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78486597..78486714hg38UCSC Ensembl
Outerchr18:76246597..76246714hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717536, esv2717497
Supporting Variants
SamplesSSM041
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)essv6710197
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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