A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591824



Internal ID6632108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045653..105049184hg38UCSC Ensembl
Innerchr2:105045653..105049184hg38UCSC Ensembl
Outerchr2:105045337..105049422hg38UCSC Ensembl
chr2:105662111..105665642hg19UCSC Ensembl
Innerchr2:105662111..105665642hg19UCSC Ensembl
Outerchr2:105661795..105665880hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383532
hg193532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598688, essv10598697, essv10598699, essv10598696, essv10598685, essv10598694, essv10598692, essv10598690, essv10598698, essv10598693, essv10598689, essv10598695, essv10598691, essv10598686, essv10598687, essv10598684
SamplesHG01205, NA20808, HG00173, HG01524, HG01461, NA12044, HG01510, HG00231, NA20765, HG02220, HG01066, NA20512, HG01773, NA20814, NA19777, HG00271
Known GenesMRPS9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591824
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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