A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928639



Internal ID9691173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77252789..77253172hg38UCSC Ensembl
Outerchr18:74964745..74965128hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717388, esv2717435
Supporting Variants
SamplesSSM019
Known GenesGALR1
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)essv6928639
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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