A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651832



Internal ID14753279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:964644..965312hg38UCSC Ensembl
Innerchr11:964644..965312hg38UCSC Ensembl
Outerchr11:964269..966658hg38UCSC Ensembl
chr11:964644..965312hg19UCSC Ensembl
Innerchr11:964644..965312hg19UCSC Ensembl
Outerchr11:964269..966658hg19UCSC Ensembl
chr11:954644..955312hg18UCSC Ensembl
Innerchr11:954644..955312hg18UCSC Ensembl
Outerchr11:954269..956658hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3366969
Supporting Variants
SamplesNA19240
Known GenesAP2A2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651832
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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