A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741242



Internal ID14741988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29793867..29950580hg38UCSC Ensembl
Innerchr6:29793917..29950530hg38UCSC Ensembl
Outerchr6:29793817..29950630hg38UCSC Ensembl
chr6:29761644..29918357hg19UCSC Ensembl
Innerchr6:29761694..29918307hg19UCSC Ensembl
Outerchr6:29761594..29918407hg19UCSC Ensembl
chr6:29869623..30026336hg18UCSC Ensembl
Innerchr6:29869673..30026286hg18UCSC Ensembl
Outerchr6:29869573..30026386hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38156714
hg19156714
hg18156714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3426050
Supporting Variants
SamplesNA19240
Known GenesHCG4B, HLA-A, HLA-G, HLA-H, LOC554223
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741242
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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