A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3359790



Internal ID15206769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550558..75586071hg38UCSC Ensembl
Innerchr2:75550583..75586046hg38UCSC Ensembl
Outerchr2:75550533..75586096hg38UCSC Ensembl
chr2:75777684..75813197hg19UCSC Ensembl
Innerchr2:75777709..75813172hg19UCSC Ensembl
Outerchr2:75777659..75813222hg19UCSC Ensembl
chr2:75631192..75666705hg18UCSC Ensembl
Innerchr2:75631217..75666680hg18UCSC Ensembl
Outerchr2:75631167..75666730hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835514
hg1935514
hg1835514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671066
SamplesNA19238
Known GenesEVA1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3359790
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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