A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720073



Internal ID10303709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182982875..182983185hg38UCSC Ensembl
Outerchr1:182952010..182952320hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921872, essv6864125, essv6906236, essv6669165, essv6847233, essv6859351, essv6699742, essv6853438, essv6714374, essv6868823, essv6682944, essv6836312
SamplesSSM083, SSM087, SSM039, SSM088, SSM090, SSM018, SSM089, SSM031, SSM014, SSM086, SSM034, SSM043
Known Genes
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)esv2720073
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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