A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8917253



Internal ID14545424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195308326..195308348hg38UCSC Ensembl
Innerchr3:195308327..195308344hg38UCSC Ensembl
Outerchr3:195308305..195308366hg38UCSC Ensembl
chr3:195029055..195029077hg19UCSC Ensembl
Innerchr3:195029056..195029073hg19UCSC Ensembl
Outerchr3:195029034..195029095hg19UCSC Ensembl
chr3:196510344..196510366hg18UCSC Ensembl
Innerchr3:196510362..196510345hg18UCSC Ensembl
Outerchr3:196510323..196510384hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381553
hg191553
hg181553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324582
Supporting Variants
SamplesNA18948
Known GenesACAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8917253
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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