A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348831



Internal ID15195813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2572273..2574371hg38UCSC Ensembl
Innerchr2:2573273..2573371hg38UCSC Ensembl
Outerchr2:2571273..2575371hg38UCSC Ensembl
chr2:2576045..2578143hg19UCSC Ensembl
Innerchr2:2577045..2577143hg19UCSC Ensembl
Outerchr2:2575045..2579143hg19UCSC Ensembl
chr2:2555052..2557150hg18UCSC Ensembl
Innerchr2:2556052..2556150hg18UCSC Ensembl
Outerchr2:2554052..2558150hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2042e59
Supporting Variantsessv8693595
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348831
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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