A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16404299



Internal ID6406116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31769649..31771571hg38UCSC Ensembl
Innerchr22:31769652..31771569hg38UCSC Ensembl
Outerchr22:31769647..31771574hg38UCSC Ensembl
chr22:32165635..32167557hg19UCSC Ensembl
Innerchr22:32165638..32167555hg19UCSC Ensembl
Outerchr22:32165633..32167560hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647596
Supporting Variants
SamplesHG01412
Known GenesDEPDC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16404299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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