A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14880973



Internal ID997338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102285647..102291822hg38UCSC Ensembl
Innerchr13:102285664..102291806hg38UCSC Ensembl
Outerchr13:102285631..102291839hg38UCSC Ensembl
chr13:102937997..102944172hg19UCSC Ensembl
Innerchr13:102938014..102944156hg19UCSC Ensembl
Outerchr13:102937981..102944189hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg386176
hg196176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633375
Supporting Variants
SamplesHG00623
Known GenesFGF14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14880973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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