A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14875972



Internal ID2827477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100815929..100858332hg38UCSC Ensembl
chr13:101468183..101510586hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3842404
hg1942404
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633353
Supporting Variants
SamplesHG02494
Known GenesNALCN-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14875972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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