A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478793



Internal ID2477795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50160208..50165322hg38UCSC Ensembl
Innerchr12:50160358..50165172hg38UCSC Ensembl
Outerchr12:50160058..50165472hg38UCSC Ensembl
chr12:50553991..50559105hg19UCSC Ensembl
Innerchr12:50554141..50558955hg19UCSC Ensembl
Outerchr12:50553841..50559255hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385115
hg195115
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629473
Supporting Variants
SamplesHG02184
Known GenesCERS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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