A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928796



Internal ID10038000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30952173..30952395hg38UCSC Ensembl
Outerchr19:31443079..31443301hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718446, esv2718447
Supporting Variants
SamplesSSM019
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)essv6928796
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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