A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741239



Internal ID15088746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29766730..29867766hg38UCSC Ensembl
Innerchr6:29766780..29867716hg38UCSC Ensembl
Outerchr6:29766680..29867816hg38UCSC Ensembl
chr6:29734507..29835543hg19UCSC Ensembl
Innerchr6:29734557..29835493hg19UCSC Ensembl
Outerchr6:29734457..29835593hg19UCSC Ensembl
chr6:29842486..29943522hg18UCSC Ensembl
Innerchr6:29842536..29943472hg18UCSC Ensembl
Outerchr6:29842436..29943572hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38101037
hg19101037
hg18101037
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3420260
Supporting Variants
SamplesNA19240
Known GenesHCG4, HLA-G, LOC554223
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741239
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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