A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329478



Internal ID4331294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:240958..244359hg38UCSC Ensembl
Innerchr12:240968..244349hg38UCSC Ensembl
Outerchr12:240948..244369hg38UCSC Ensembl
chr12:350124..353525hg19UCSC Ensembl
Innerchr12:350134..353515hg19UCSC Ensembl
Outerchr12:350114..353535hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383402
hg193402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628228
Supporting Variants
SamplesHG02896
Known GenesSLC6A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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