A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486755



Internal ID1745711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56940163..56988848hg38UCSC Ensembl
chr12:57333947..57382632hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3848686
hg1948686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629605
Supporting Variants
SamplesHG01612
Known GenesRDH16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486755
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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