A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591832



Internal ID6632116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105718584..105763440hg38UCSC Ensembl
chr2:106335041..106379897hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3844857
hg1944857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10599227
SamplesHG01253
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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