A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695297



Internal ID15052489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40349835..40351133hg38UCSC Ensembl
Innerchr6:40350133..40350835hg38UCSC Ensembl
Outerchr6:40348835..40352133hg38UCSC Ensembl
chr6:40317574..40318872hg19UCSC Ensembl
Innerchr6:40317872..40318574hg19UCSC Ensembl
Outerchr6:40316574..40319872hg19UCSC Ensembl
chr6:40425552..40426850hg18UCSC Ensembl
Innerchr6:40426552..40425850hg18UCSC Ensembl
Outerchr6:40424552..40427850hg18UCSC 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 Variantsesv3399718
Supporting Variants
SamplesNA19239
Known GenesLINC00951
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695297
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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