A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402278



Internal ID15249240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127852157..127852189hg38UCSC Ensembl
Innerchr2:127852108..127852238hg38UCSC Ensembl
Outerchr2:127852076..127852270hg38UCSC Ensembl
chr2:128609731..128609763hg19UCSC Ensembl
Innerchr2:128609682..128609812hg19UCSC Ensembl
Outerchr2:128609650..128609844hg19UCSC Ensembl
chr2:128326201..128326233hg18UCSC Ensembl
Innerchr2:128326282..128326152hg18UCSC Ensembl
Outerchr2:128326120..128326314hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864015
SamplesNA12005
Known GenesPOLR2D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402278
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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