A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676585



Internal ID9942690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32297446..32298338hg38UCSC Ensembl
chr3:32338938..32339830hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6132895, essv5679121, essv5495897, essv5844218, essv6303094, essv5843855, essv5942504, essv6278889, essv5682020, essv6254890, essv6290423, essv6465098, essv5459138, essv5850787, essv6366669, essv5966832, essv5681462, essv5461471, essv5996981, essv6391845, essv5979542
SamplesNA12045, NA18486, HG00337, NA12813, NA20795, HG00736, NA07347, NA12761, NA20759, HG00309, NA12748, HG00282, HG01515, NA20536, HG01383, HG00117, NA20799, HG01357, HG01174, HG00256, NA20502
Known GenesCMTM8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676585
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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