A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753617



Internal ID9815400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179486504..179489238hg38UCSC Ensembl
Outerchr1:179455639..179458373hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382735
hg192735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719884
Supporting Variants
SamplesSSM058
Known GenesAXDND1
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)essv6753617
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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