A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14793705



Internal ID5275599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72725451..72726164hg38UCSC Ensembl
Innerchr13:72725451..72726164hg38UCSC Ensembl
Outerchr13:72725147..72726531hg38UCSC Ensembl
chr13:73299589..73300302hg19UCSC Ensembl
Innerchr13:73299589..73300302hg19UCSC Ensembl
Outerchr13:73299285..73300669hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632699
Supporting Variants
SamplesNA18644
Known GenesMZT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14793705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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