A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14383234



Internal ID2381559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11606876..11609418hg38UCSC Ensembl
Innerchr12:11606889..11609406hg38UCSC Ensembl
Outerchr12:11606864..11609431hg38UCSC Ensembl
chr12:11759810..11762352hg19UCSC Ensembl
Innerchr12:11759823..11762340hg19UCSC Ensembl
Outerchr12:11759798..11762365hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628589
Supporting Variants
SamplesHG02111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14383234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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