A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941837



Internal ID9703642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63980957..63982361hg38UCSC Ensembl
Outerchr1:64446629..64448033hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749085
Supporting Variants
SamplesSSM023
Known GenesROR1
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)essv6941837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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