A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628884



Internal ID6669025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24940270..24980375hg38UCSC Ensembl
chr12:25093204..25133309hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3840106
hg1940106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14414886, essv14414887
SamplesNA12046, NA12045
Known GenesBCAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628884
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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