A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430054



Internal ID14930324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27457781..27459479hg38UCSC Ensembl
Innerchr2:27458479..27458781hg38UCSC Ensembl
Outerchr2:27456781..27460479hg38UCSC Ensembl
chr2:27680648..27682346hg19UCSC Ensembl
Innerchr2:27681346..27681648hg19UCSC Ensembl
Outerchr2:27679648..27683346hg19UCSC Ensembl
chr2:27534152..27535850hg18UCSC Ensembl
Innerchr2:27535152..27534850hg18UCSC Ensembl
Outerchr2:27533152..27536850hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693604
SamplesNA19239
Known GenesIFT172
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430054
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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