A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14729302



Internal ID4731118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50938798..50941781hg38UCSC Ensembl
Innerchr13:50938800..50941780hg38UCSC Ensembl
Outerchr13:50938797..50941783hg38UCSC Ensembl
chr13:51512934..51515917hg19UCSC Ensembl
Innerchr13:51512936..51515916hg19UCSC Ensembl
Outerchr13:51512933..51515919hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382984
hg192984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632073
Supporting Variants
SamplesHG02330
Known GenesRNASEH2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14729302
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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