A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676204



Internal ID13644817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131999285..131999307hg38UCSC Ensembl
Innerchr6:131999286..131999303hg38UCSC Ensembl
Outerchr6:131999264..131999328hg38UCSC Ensembl
chr6:132320425..132320447hg19UCSC Ensembl
Innerchr6:132320426..132320443hg19UCSC Ensembl
Outerchr6:132320404..132320468hg19UCSC Ensembl
chr6:132362118..132362140hg18UCSC Ensembl
Innerchr6:132362136..132362119hg18UCSC Ensembl
Outerchr6:132362097..132362161hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3431095
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676204
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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