A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781310



Internal ID9656171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21720265..21722742hg38UCSC Ensembl
Outerchr19:21903067..21905544hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718344, esv2718335, esv2718343, esv2718337, esv2718342
Supporting Variants
SamplesSSM008
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)essv6781310
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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