A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338334



Internal ID511465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3231802..3237704hg38UCSC Ensembl
Innerchr12:3231802..3237704hg38UCSC Ensembl
Outerchr12:3231532..3237860hg38UCSC Ensembl
chr12:3340968..3346870hg19UCSC Ensembl
Innerchr12:3340968..3346870hg19UCSC Ensembl
Outerchr12:3340698..3347026hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385903
hg195903
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628341
Supporting Variants
SamplesHG00182
Known GenesTSPAN9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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