A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8959611



Internal ID13268358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31317898..31317909hg38UCSC Ensembl
Innerchr13:31317888..31317916hg38UCSC Ensembl
Outerchr13:31317877..31317927hg38UCSC Ensembl
chr13:31892035..31892046hg19UCSC Ensembl
Innerchr13:31892025..31892053hg19UCSC Ensembl
Outerchr13:31892014..31892064hg19UCSC Ensembl
chr13:30790035..30790046hg18UCSC Ensembl
Innerchr13:30790053..30790025hg18UCSC Ensembl
Outerchr13:30790014..30790064hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421234
Supporting Variants
SamplesNA11995
Known GenesB3GALTL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8959611
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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