A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671225



Internal ID9590644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29798766..29955223hg38UCSC Ensembl
chr6:29766543..29923000hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38156458
hg19156458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1086e199
Supporting Variantsessv5717087, essv6181172, essv5699135
SamplesNA19448, HG00418, NA18610
Known GenesHCG4B, HLA-A, HLA-G, HLA-H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671225
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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