A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717220



Internal ID9649886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42781471..42945228hg38UCSC Ensembl
Outerchr19:43285623..43449380hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38163758
hg19163758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718593
Supporting Variants
SamplesSSM006
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
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)essv6717220
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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