A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717003



Internal ID10300639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:41563142..41563765hg38UCSC Ensembl
Outerchr18:39143106..39143729hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960625, essv6846551, essv6967094, essv6674433, essv6776459
SamplesSSM027, SSM026, SSM031, SSM066, SSM085
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)esv2717003
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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