A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739695



Internal ID9974036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6265117..6265457hg38UCSC Ensembl
Outerchr1:6325177..6325517hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937660, essv6793268
SamplesSSM071, SSM022
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)esv2739695
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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