A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741261



Internal ID15088414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73162838..73162838hg38UCSC Ensembl
Innerchr6:73162837..73162839hg38UCSC Ensembl
Outerchr6:73162788..73162888hg38UCSC Ensembl
chr6:73872561..73872561hg19UCSC Ensembl
Innerchr6:73872560..73872562hg19UCSC Ensembl
Outerchr6:73872511..73872611hg19UCSC Ensembl
chr6:73929282..73929282hg18UCSC Ensembl
Innerchr6:73929283..73929281hg18UCSC Ensembl
Outerchr6:73929232..73929332hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38748
hg19748
hg18748
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417949
Supporting Variants
SamplesNA19240
Known GenesKCNQ5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741261
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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