A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864223



Internal ID12970038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178792399..178792432hg38UCSC Ensembl
Innerchr3:178792349..178792482hg38UCSC Ensembl
Outerchr3:178792316..178792515hg38UCSC Ensembl
chr3:178510187..178510220hg19UCSC Ensembl
Innerchr3:178510137..178510270hg19UCSC Ensembl
Outerchr3:178510104..178510303hg19UCSC Ensembl
chr3:179992881..179992914hg18UCSC Ensembl
Innerchr3:179992964..179992831hg18UCSC Ensembl
Outerchr3:179992798..179992997hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3375577
Supporting Variants
SamplesNA12005
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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