A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676323



Internal ID9942428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29888255..29943057hg38UCSC Ensembl
chr6:29856032..29910834hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3854803
hg1954803
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1087e199
Supporting Variantsessv5979965, essv6536024, essv5461780, essv5764489, essv5513573, essv6000567, essv5493029, essv5902478, essv6372518, essv5964432, essv6067221, essv5812118, essv5759920, essv5456623, essv6137681, essv5814712, essv6200651, essv5582214, essv6106965, essv5403028, essv6286653
SamplesNA18947, NA12286, NA10851, NA19777, HG01456, NA20517, NA18526, NA18940, NA19198, NA20755, NA12489, HG00245, NA20505, HG01095, NA19327, NA19455, NA20314, HG01498, NA12829, NA11894, NA18562
Known GenesHCG4B, HLA-A, HLA-H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676323
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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