A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720457



Internal ID9954753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102002650..102003543hg38UCSC Ensembl
Outerchr2:102619112..102620005hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38894
hg19894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669534, essv6910419, essv6896094, essv6742412
SamplesSSM031, SSM015, SSM053, SSM099
Known GenesIL1R2
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)esv2720457
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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