A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384546



Internal ID15231516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70631456..70631467hg38UCSC Ensembl
Innerchr2:70631435..70631488hg38UCSC Ensembl
Outerchr2:70631424..70631499hg38UCSC Ensembl
chr2:70858588..70858599hg19UCSC Ensembl
Innerchr2:70858567..70858620hg19UCSC Ensembl
Outerchr2:70858556..70858631hg19UCSC Ensembl
chr2:70712096..70712107hg18UCSC Ensembl
Innerchr2:70712128..70712075hg18UCSC Ensembl
Outerchr2:70712064..70712139hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863917
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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