A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695300



Internal ID15092427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40349935..40351233hg38UCSC Ensembl
Innerchr6:40350233..40350935hg38UCSC Ensembl
Outerchr6:40348935..40352233hg38UCSC Ensembl
chr6:40317674..40318972hg19UCSC Ensembl
Innerchr6:40317972..40318674hg19UCSC Ensembl
Outerchr6:40316674..40319972hg19UCSC Ensembl
chr6:40425652..40426950hg18UCSC Ensembl
Innerchr6:40426652..40425950hg18UCSC Ensembl
Outerchr6:40424652..40427950hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3354056
Supporting Variants
SamplesNA19240
Known GenesLINC00951
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695300
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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