A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647718



Internal ID6687772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37736628..37741286hg38UCSC Ensembl
Innerchr22:37736654..37741260hg38UCSC Ensembl
Outerchr22:37736602..37741312hg38UCSC Ensembl
chr22:38132635..38137293hg19UCSC Ensembl
Innerchr22:38132661..38137267hg19UCSC Ensembl
Outerchr22:38132609..38137319hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384659
hg194659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421177, essv16421178
SamplesNA19703, HG02014
Known GenesTRIOBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647718
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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