A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14606793



Internal ID4608610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113359252..113362427hg38UCSC Ensembl
Innerchr12:113359263..113362416hg38UCSC Ensembl
Outerchr12:113359241..113362438hg38UCSC Ensembl
chr12:113797057..113800232hg19UCSC Ensembl
Innerchr12:113797068..113800221hg19UCSC Ensembl
Outerchr12:113797046..113800243hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg383176
hg193176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630797
Supporting Variants
SamplesHG03577
Known GenesPLBD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14606793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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