A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696713



Internal ID9763224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37261651..37328369hg38UCSC Ensembl
Outerchr19:37752553..37819271hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3866719
hg1966719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718515
Supporting Variants
SamplesSSM037
Known GenesLOC284412
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)essv6696713
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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