A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741256



Internal ID15088954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41434312..41434312hg38UCSC Ensembl
Innerchr6:41434311..41434313hg38UCSC Ensembl
Outerchr6:41434262..41434362hg38UCSC Ensembl
chr6:41402050..41402050hg19UCSC Ensembl
Innerchr6:41402049..41402051hg19UCSC Ensembl
Outerchr6:41402000..41402100hg19UCSC Ensembl
chr6:41510028..41510028hg18UCSC Ensembl
Innerchr6:41510029..41510027hg18UCSC Ensembl
Outerchr6:41509978..41510078hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38926
hg19926
hg18926
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386152
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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