A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303063



Internal ID14803325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75593915..75690043hg38UCSC Ensembl
Innerchr2:75594015..75689943hg38UCSC Ensembl
Outerchr2:75593815..75690143hg38UCSC Ensembl
chr2:75821041..75917169hg19UCSC Ensembl
Innerchr2:75821141..75917069hg19UCSC Ensembl
Outerchr2:75820941..75917269hg19UCSC Ensembl
chr2:75674549..75770677hg18UCSC Ensembl
Innerchr2:75674649..75770577hg18UCSC Ensembl
Outerchr2:75674449..75770777hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3896129
hg1996129
hg1896129
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7738377
SamplesNA18555
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303063
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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