A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324582



Internal ID15171561
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 StatusM
Merged Variants
Supporting Variantsessv8917259, essv8917253, essv8917251, essv8917256, essv8917252, essv8917257, essv8917255, essv8917254
SamplesNA12045, NA18638, NA18951, NA18572, NA18948, NA18573, NA18564, NA18552
Known GenesACAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324582
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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