A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718346



Internal ID9952637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21846483..21926626hg38UCSC Ensembl
Outerchr19:22029285..22109428hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3880144
hg1980144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801305, essv6784640, essv6852785, essv6960987
SamplesSSM026, SSM086, SSM068, SSM072
Known GenesZNF43
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)esv2718346
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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