A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13946458



Internal ID2040693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:117291316..117300493hg38UCSC Ensembl
Innerchr10:117291816..117299993hg38UCSC Ensembl
Outerchr10:117290316..117301493hg38UCSC Ensembl
chr10:119050827..119060004hg19UCSC Ensembl
Innerchr10:119051327..119059504hg19UCSC Ensembl
Outerchr10:119049827..119061004hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg389178
hg199178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624676
Supporting Variants
SamplesHG01868
Known GenesPDZD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13946458
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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