A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667348



Internal ID9933453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72725459..72726167hg38UCSC Ensembl
chr13:73299597..73300305hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6281121, essv6009657, essv5693456, essv6207364, essv6234666, essv5830099, essv5735143, essv5668695, essv5652150, essv5963799, essv6545735, essv5697915, essv5940540, essv6425087, essv5578915, essv6436528, essv5529197, essv6552528, essv5514873, essv5522738, essv6525649, essv5738494, essv6045276, essv5645634, essv6492988, essv6319460, essv5740488, essv6333175, essv6464298
SamplesHG00559, NA18599, NA18526, HG00693, HG00663, NA18595, HG00702, NA18990, HG00543, NA19077, HG00428, HG00701, HG00583, HG00500, NA19064, NA18626, HG00525, NA18553, NA18555, NA19012, NA18533, HG00620, HG00478, NA19060, HG00656, NA18609, NA18984, NA18989, NA18624
Known GenesMZT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667348
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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