A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14622439



Internal ID3757564
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631002
Supporting Variants
SamplesHG03388
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14622439
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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