A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14704985



Internal ID5509307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41420952..41450662hg38UCSC Ensembl
Innerchr13:41421102..41450512hg38UCSC Ensembl
Outerchr13:41420802..41450812hg38UCSC Ensembl
chr13:41995088..42024798hg19UCSC Ensembl
Innerchr13:41995238..42024648hg19UCSC Ensembl
Outerchr13:41994938..42024948hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3829711
hg1929711
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631875
Supporting Variants
SamplesNA18988
Known GenesOR7E37P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14704985
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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