A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693344



Internal ID15116324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48881536..48882834hg38UCSC Ensembl
Innerchr22:48881834..48882536hg38UCSC Ensembl
Outerchr22:48880536..48883834hg38UCSC Ensembl
chr22:49277348..49278646hg19UCSC Ensembl
Innerchr22:49277646..49278348hg19UCSC Ensembl
Outerchr22:49276348..49279646hg19UCSC Ensembl
chr22:47663352..47664650hg18UCSC Ensembl
Innerchr22:47664352..47663650hg18UCSC Ensembl
Outerchr22:47662352..47665650hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3350234
Supporting Variants
SamplesNA19240
Known GenesLOC100128946
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693344
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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