A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383426



Internal ID14883702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69985216..69987514hg38UCSC Ensembl
Innerchr2:69986216..69986514hg38UCSC Ensembl
Outerchr2:69984216..69988514hg38UCSC Ensembl
chr2:70212348..70214646hg19UCSC Ensembl
Innerchr2:70213348..70213646hg19UCSC Ensembl
Outerchr2:70211348..70215646hg19UCSC Ensembl
chr2:70065852..70068150hg18UCSC Ensembl
Innerchr2:70066852..70067150hg18UCSC Ensembl
Outerchr2:70064852..70069150hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693683
SamplesNA19239
Known GenesPCBP1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383426
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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