A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14414885



Internal ID4416701
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628883
Supporting Variants
SamplesNA12046
Known GenesBCAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14414885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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