A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717437



Internal ID9951728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77258841..77259431hg38UCSC Ensembl
Outerchr18:74970797..74971387hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713758, essv6967165, essv6696463, essv6703351, essv6858490, essv6725329, essv6971716, essv6932778, essv6710190, essv6666120, essv6792737, essv6868171, essv6713757, essv6692300, essv6839451
SamplesSSM036, SSM083, SSM027, SSM045, SSM087, SSM039, SSM042, SSM041, 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)esv2717437
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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