A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695044



Internal ID15050325
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 StatusS
Merged Variantsesv3354997
Supporting Variants
SamplesNA19239
Known GenesGFOD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695044
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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