A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14334655



Internal ID4336471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1626341..1628231hg38UCSC Ensembl
Innerchr12:1626367..1628206hg38UCSC Ensembl
Outerchr12:1626316..1628257hg38UCSC Ensembl
chr12:1735507..1737397hg19UCSC Ensembl
Innerchr12:1735533..1737372hg19UCSC Ensembl
Outerchr12:1735482..1737423hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381891
hg191891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628288
Supporting Variants
SamplesHG04144
Known GenesWNT5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14334655
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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