A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395790



Internal ID15242754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2572273..2574071hg38UCSC Ensembl
Innerchr2:2573071..2573273hg38UCSC Ensembl
Outerchr2:2571273..2575071hg38UCSC Ensembl
chr2:2576045..2577843hg19UCSC Ensembl
Innerchr2:2576843..2577045hg19UCSC Ensembl
Outerchr2:2575045..2578843hg19UCSC Ensembl
chr2:2555052..2556850hg18UCSC Ensembl
Innerchr2:2556052..2555850hg18UCSC Ensembl
Outerchr2:2554052..2557850hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2042e59
Supporting Variantsessv8693594
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395790
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer