A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666711



Internal ID9644480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22958009..22960102hg38UCSC Ensembl
Outerchr19:23140811..23142904hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718337, esv2718366
Supporting Variants
SamplesSSM004
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)essv6666711
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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