A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302671



Internal ID15149619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75550526..75586041hg38UCSC Ensembl
Innerchr2:75550626..75585941hg38UCSC Ensembl
Outerchr2:75550426..75586141hg38UCSC Ensembl
chr2:75777652..75813167hg19UCSC Ensembl
Innerchr2:75777752..75813067hg19UCSC Ensembl
Outerchr2:75777552..75813267hg19UCSC Ensembl
chr2:75631160..75666675hg18UCSC Ensembl
Innerchr2:75631260..75666575hg18UCSC Ensembl
Outerchr2:75631060..75666775hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835516
hg1935516
hg1835516
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7730966
SamplesNA19238
Known GenesEVA1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302671
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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