A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358357



Internal ID14858619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32026297..32029195hg38UCSC Ensembl
Innerchr6:32027297..32028195hg38UCSC Ensembl
Outerchr6:32025297..32030194hg38UCSC Ensembl
chr6:31994074..31996972hg19UCSC Ensembl
Innerchr6:31995074..31995972hg19UCSC Ensembl
Outerchr6:31993074..31997971hg19UCSC Ensembl
chr6:32102052..32104950hg18UCSC Ensembl
Innerchr6:32103052..32103950hg18UCSC Ensembl
Outerchr6:32101052..32105950hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695256
SamplesNA19238
Known GenesC4A, C4B, C4B_2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358357
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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