A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676436



Internal ID14706820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45884947..45884988hg38UCSC Ensembl
Innerchr6:45884942..45884993hg38UCSC Ensembl
Outerchr6:45884901..45885034hg38UCSC Ensembl
chr6:45852684..45852725hg19UCSC Ensembl
Innerchr6:45852679..45852730hg19UCSC Ensembl
Outerchr6:45852638..45852771hg19UCSC Ensembl
chr6:45960662..45960703hg18UCSC Ensembl
Innerchr6:45960708..45960657hg18UCSC Ensembl
Outerchr6:45960616..45960749hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341349
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676436
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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