A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741245



Internal ID14742100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29815363..29962582hg38UCSC Ensembl
Innerchr6:29815413..29962532hg38UCSC Ensembl
Outerchr6:29815313..29962632hg38UCSC Ensembl
chr6:29783140..29930359hg19UCSC Ensembl
Innerchr6:29783190..29930309hg19UCSC Ensembl
Outerchr6:29783090..29930409hg19UCSC Ensembl
chr6:29891119..30038338hg18UCSC Ensembl
Innerchr6:29891169..30038288hg18UCSC Ensembl
Outerchr6:29891069..30038388hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38147220
hg19147220
hg18147220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3411103
Supporting Variants
SamplesNA19240
Known GenesHCG4B, HLA-A, HLA-G, HLA-H
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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