A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675629



Internal ID9595048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54517074..54517452hg38UCSC Ensembl
chr2:54744211..54744589hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38379
hg19379
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv700e199
Supporting Variantsessv5922844, essv5996268, essv6317064, essv6545719, essv5855054, essv5773460
SamplesNA18861, HG01066, NA19190, HG00159, NA19398, NA19129
Known GenesSPTBN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675629
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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