A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672905



Internal ID9592324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52481268..52481405hg38UCSC Ensembl
chr18:50007638..50007775hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5494622, essv6396900, essv5678326, essv6122865, essv5539310, essv6351845, essv6448001, essv5618414, essv6170302
SamplesHG01055, HG00256, HG00373, HG01066, HG00325, HG00273, HG01070, HG00251, HG00136
Known GenesDCC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672905
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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