A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718619



Internal ID9952911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:44337305..44337485hg38UCSC Ensembl
Outerchr19:44841458..44841638hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846755, essv6971963
SamplesSSM028, SSM085
Known GenesZNF112
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)esv2718619
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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