A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14794264



Internal ID3969026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73431546..73432721hg38UCSC Ensembl
Innerchr13:73431569..73432698hg38UCSC Ensembl
Outerchr13:73431523..73432744hg38UCSC Ensembl
chr13:74005683..74006858hg19UCSC Ensembl
Innerchr13:74005706..74006835hg19UCSC Ensembl
Outerchr13:74005660..74006881hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381176
hg191176
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632709
Supporting Variants
SamplesHG03624
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14794264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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