A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423201



Internal ID14923473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56864489..56864515hg38UCSC Ensembl
Innerchr6:56864487..56864514hg38UCSC Ensembl
Outerchr6:56864464..56864540hg38UCSC Ensembl
chr6:56729287..56729313hg19UCSC Ensembl
Innerchr6:56729285..56729312hg19UCSC Ensembl
Outerchr6:56729262..56729338hg19UCSC Ensembl
chr6:56837246..56837272hg18UCSC Ensembl
Innerchr6:56837271..56837244hg18UCSC Ensembl
Outerchr6:56837221..56837297hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381058
hg191058
hg181058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8929805, essv8929811, essv8929804, essv8929801, essv8929806, essv8929810, essv8929809, essv8929812, essv8929803, essv8929808, essv8929807
SamplesNA18508, NA18510, NA18519, NA18498, NA19172, NA19114, NA18853, NA18523, NA18517, NA18501, NA18505
Known GenesDST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423201
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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