A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652155



Internal ID14755301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19390137..19390276hg38UCSC Ensembl
Innerchr22:19390137..19390276hg38UCSC Ensembl
Outerchr22:19389527..19390281hg38UCSC Ensembl
chr22:19377660..19377799hg19UCSC Ensembl
Innerchr22:19377660..19377799hg19UCSC Ensembl
Outerchr22:19377050..19377804hg19UCSC Ensembl
chr22:17757660..17757799hg18UCSC Ensembl
Innerchr22:17757660..17757799hg18UCSC Ensembl
Outerchr22:17757050..17757804hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410502
Supporting Variants
SamplesNA19240
Known GenesHIRA
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652155
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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