A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746441



Internal ID10327411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31579915..31580368hg38UCSC Ensembl
Outerchr1:32045516..32045969hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6714271, essv6824997, essv6789176, essv6954774, essv6748610, essv6961589, essv6910067
SamplesSSM008, SSM027, SSM026, SSM015, SSM080, SSM070, SSM043
Known GenesTINAGL1
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)esv2746441
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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