A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354039



Internal ID15201020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40349935..40351133hg38UCSC Ensembl
Innerchr6:40350133..40350935hg38UCSC Ensembl
Outerchr6:40348935..40352133hg38UCSC Ensembl
chr6:40317674..40318872hg19UCSC Ensembl
Innerchr6:40317872..40318674hg19UCSC Ensembl
Outerchr6:40316674..40319872hg19UCSC Ensembl
chr6:40425652..40426850hg18UCSC Ensembl
Innerchr6:40426652..40425850hg18UCSC Ensembl
Outerchr6:40424652..40427850hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3496e59
Supporting Variantsessv8695299
SamplesNA19238
Known GenesLINC00951
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354039
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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