A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6967995



Internal ID9730285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83922663..83923264hg38UCSC Ensembl
Outerchr1:84388346..84388947hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714229
Supporting Variants
SamplesSSM028
Known GenesTTLL7
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)essv6967995
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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