A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631002



Internal ID7017816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124072017..124112604hg38UCSC Ensembl
chr12:124556564..124597150hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3840588
hg1940587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14622439
SamplesHG03388
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631002
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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