A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6758879



Internal ID9817833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:37261973..37328078hg38UCSC Ensembl
Outerchr19:37752875..37818980hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3866106
hg1966106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718515
Supporting Variants
SamplesSSM059
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)essv6758879
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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