A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13198099



Internal ID5173062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50665792..50709656hg38UCSC Ensembl
Innerchr8:50665792..50709656hg38UCSC Ensembl
Outerchr8:50665292..50710156hg38UCSC Ensembl
chr8:51578352..51622216hg19UCSC Ensembl
Innerchr8:51578352..51622216hg19UCSC Ensembl
Outerchr8:51577852..51622716hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3843865
hg1943865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617179
Supporting Variants
SamplesNA18602
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13198099
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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