A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10511161



Internal ID512977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54516217..54525108hg38UCSC Ensembl
chr2:54743354..54752245hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg388892
hg198892
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590844
Supporting Variants
SamplesHG03742
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10511161
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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