A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647705



Internal ID7034445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37247140..37252038hg38UCSC Ensembl
Innerchr22:37247140..37252038hg38UCSC Ensembl
Outerchr22:37246833..37252350hg38UCSC Ensembl
chr22:37643180..37648078hg19UCSC Ensembl
Innerchr22:37643180..37648078hg19UCSC Ensembl
Outerchr22:37642873..37648390hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384899
hg194899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16420838, essv16420835, essv16420837, essv16420840, essv16420839, essv16420833, essv16420841, essv16420836, essv16420834, essv16420832
SamplesHG03593, HG00102, HG03015, HG00327, HG00113, NA21114, HG04180, HG01777, HG03716, HG00274
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647705
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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