A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414452



Internal ID15261411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164925373..164926671hg38UCSC Ensembl
Innerchr6:164925671..164926373hg38UCSC Ensembl
Outerchr6:164924373..164927671hg38UCSC Ensembl
chr6:165338862..165340160hg19UCSC Ensembl
Innerchr6:165339160..165339862hg19UCSC Ensembl
Outerchr6:165337862..165341160hg19UCSC Ensembl
chr6:165258852..165260150hg18UCSC Ensembl
Innerchr6:165259852..165259150hg18UCSC Ensembl
Outerchr6:165257852..165261150hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3706e59
Supporting Variantsessv8695088
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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