A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718668



Internal ID10302304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47837996..47838741hg38UCSC Ensembl
Outerchr19:48341253..48341998hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692485, essv6733204, essv6776696, essv6909814, essv6758892, essv6780529, essv6797151
SamplesSSM059, SSM036, SSM071, SSM047, SSM067, SSM014, SSM066
Known GenesCRX
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)esv2718668
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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