A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592924



Internal ID6980251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151812157..151840483hg38UCSC Ensembl
chr2:152668671..152696997hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3828327
hg1928327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10711173, essv10711174
SamplesNA19355, HG03160
Known GenesARL5A, CACNB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592924
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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