A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302635



Internal ID15149583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118136409..118136520hg38UCSC Ensembl
Innerchr2:118136464..118136464hg38UCSC Ensembl
Outerchr2:118136309..118136620hg38UCSC Ensembl
chr2:118893985..118894096hg19UCSC Ensembl
Innerchr2:118894040..118894040hg19UCSC Ensembl
Outerchr2:118893885..118894196hg19UCSC Ensembl
chr2:118610455..118610566hg18UCSC Ensembl
Innerchr2:118610510..118610510hg18UCSC Ensembl
Outerchr2:118610355..118610666hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2223e59
Supporting Variantsessv7731366, essv7730979, essv7731000, essv7731671
SamplesNA19238, NA12878, NA12892, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302635
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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