A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478789



Internal ID2280045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50152417..50156080hg38UCSC Ensembl
Innerchr12:50152451..50156047hg38UCSC Ensembl
Outerchr12:50152384..50156114hg38UCSC Ensembl
chr12:50546200..50549863hg19UCSC Ensembl
Innerchr12:50546234..50549830hg19UCSC Ensembl
Outerchr12:50546167..50549897hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383664
hg193664
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629472
Supporting Variants
SamplesHG02035
Known GenesCERS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478789
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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