A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741238



Internal ID14741992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29765460..29993636hg38UCSC Ensembl
Innerchr6:29765510..29993586hg38UCSC Ensembl
Outerchr6:29765410..29993686hg38UCSC Ensembl
chr6:29733237..29961413hg19UCSC Ensembl
Innerchr6:29733287..29961363hg19UCSC Ensembl
Outerchr6:29733187..29961463hg19UCSC Ensembl
chr6:29841216..30069392hg18UCSC Ensembl
Innerchr6:29841266..30069342hg18UCSC Ensembl
Outerchr6:29841166..30069442hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38228177
hg19228177
hg18228177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3332677
Supporting Variants
SamplesNA19240
Known GenesHCG4, HCG4B, HCG9, HLA-A, HLA-G, HLA-H, LOC554223
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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