A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717054



Internal ID10300690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47934151..47938148hg38UCSC Ensembl
Outerchr18:45460522..45464519hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383998
hg193998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916891, essv6941219, essv6945880, essv6932743, essv6840287, essv6779310, essv6715798, essv6928611, essv6977683, essv6949943, essv6913435
SamplesSSM008, SSM024, SSM023, SSM019, SSM006, SSM020, SSM015, SSM016, SSM022, SSM010, SSM004
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)esv2717054
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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