A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717439



Internal ID9951730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77258964..77259219hg38UCSC Ensembl
Outerchr18:74970920..74971175hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713758, essv6967165, essv6696463, essv6858490, essv6725329, essv6971716, essv6932778, essv6666120, essv6792737, essv6868171, essv6692300, essv6839451
SamplesSSM036, SSM083, SSM027, SSM045, SSM087, SSM042, SSM028, SSM029, SSM089, SSM020, SSM037, SSM070
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)esv2717439
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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