A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671533



Internal ID9937638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36327322..36327843hg38UCSC Ensembl
chr21:37699620..37700141hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5872166, essv6242416, essv6389020, essv5687627, essv5958702, essv5607515, essv5581686, essv6449953, essv5830266, essv6470214, essv6405461
SamplesHG01051, NA19373, NA18916, NA19904, NA19707, NA19982, NA18910, NA18871, NA19625, NA19380, NA19360
Known GenesMORC3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671533
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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