A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354997



Internal ID15201978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13479541..13481139hg38UCSC Ensembl
Innerchr6:13480139..13480541hg38UCSC Ensembl
Outerchr6:13478541..13482139hg38UCSC Ensembl
chr6:13479773..13481371hg19UCSC Ensembl
Innerchr6:13480371..13480773hg19UCSC Ensembl
Outerchr6:13478773..13482371hg19UCSC Ensembl
chr6:13587752..13589350hg18UCSC Ensembl
Innerchr6:13588752..13588350hg18UCSC Ensembl
Outerchr6:13586752..13590350hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695044
SamplesNA19239
Known GenesGFOD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354997
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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