A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13948076



Internal ID5298716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119400593..119409759hg38UCSC Ensembl
Innerchr10:119400593..119409759hg38UCSC Ensembl
Outerchr10:119400093..119410259hg38UCSC Ensembl
chr10:121160105..121169271hg19UCSC Ensembl
Innerchr10:121160105..121169271hg19UCSC Ensembl
Outerchr10:121159605..121169771hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg389167
hg199167
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624704
Supporting Variants
SamplesNA18749
Known GenesGRK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13948076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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