A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14637222



Internal ID4639514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130375734..130607674hg38UCSC Ensembl
chr12:130860279..131092219hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38231941
hg19231941
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631200
Supporting Variants
SamplesHG01173
Known GenesRIMBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14637222
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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