A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710540



Internal ID4712356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44468293..44468970hg38UCSC Ensembl
Innerchr13:44468293..44468970hg38UCSC Ensembl
Outerchr13:44468293..44468970hg38UCSC Ensembl
chr13:45042429..45043106hg19UCSC Ensembl
Innerchr13:45042429..45043106hg19UCSC Ensembl
Outerchr13:45042429..45043106hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631934
Supporting Variants
SamplesNA20888
Known GenesTSC22D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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