A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739806



Internal ID9974147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6265263..6265392hg38UCSC Ensembl
Outerchr1:6325323..6325452hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937660
SamplesSSM022
Known GenesACOT7
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)esv2739806
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer