A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664789



Internal ID9930894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:105356822..105359147hg38UCSC Ensembl
chr3:105075666..105077991hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5419524, essv5930445, essv5683094, essv6502697, essv5605364, essv6266428, essv6385195, essv5815428, essv6267842, essv5586375, essv5432290, essv6419187, essv5417186, essv6523736, essv5764267, essv6099452, essv5708196, essv6229932
SamplesNA20588, HG00315, HG00151, NA20512, HG01461, HG00327, HG01488, HG00158, HG00120, HG00335, NA20770, NA20581, HG00336, HG00285, HG01491, HG00342, HG00280, HG00345
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664789
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer