A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628883



Internal ID6669024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24930714..24954484hg38UCSC Ensembl
Innerchr12:24930714..24954484hg38UCSC Ensembl
Outerchr12:24930214..24954984hg38UCSC Ensembl
chr12:25083648..25107418hg19UCSC Ensembl
Innerchr12:25083648..25107418hg19UCSC Ensembl
Outerchr12:25083148..25107918hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3823771
hg1923771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14414885, essv14414883, essv14414884
SamplesNA12046, HG03691, NA12045
Known GenesBCAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628883
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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