A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375577



Internal ID14875842
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 StatusM
Merged Variants
Supporting Variantsessv7864223
SamplesNA12005
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375577
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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