A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667055



Internal ID9644726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42707657..42999837hg38UCSC Ensembl
Outerchr19:43211809..43503989hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38292181
hg19292181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718593
Supporting Variants
SamplesSSM004
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG7, PSG8
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)essv6667055
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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