A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14712211



Internal ID4714027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45783661..45882541hg38UCSC Ensembl
chr13:46357796..46456676hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3898881
hg1998881
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631970
Supporting Variants
SamplesHG01052
Known GenesSIAH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14712211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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