A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769288



Internal ID9826792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41700082..41700566hg38UCSC Ensembl
Outerchr19:42204001..42204485hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718579, esv2718577
Supporting Variants
SamplesSSM064
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)essv6769288
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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