A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13765026



Internal ID3766842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44713185..44864432hg38UCSC Ensembl
Innerchr10:44713335..44864282hg38UCSC Ensembl
Outerchr10:44713035..44864582hg38UCSC Ensembl
chr10:45208633..45359880hg19UCSC Ensembl
Innerchr10:45208783..45359730hg19UCSC Ensembl
Outerchr10:45208483..45360030hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38151248
hg19151248
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623068
Supporting Variants
SamplesHG01061
Known GenesTMEM72-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13765026
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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