A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13327799



Internal ID2575676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129797730..129803860hg38UCSC Ensembl
Innerchr8:129797733..129803857hg38UCSC Ensembl
Outerchr8:129797727..129803863hg38UCSC Ensembl
chr8:130809976..130816106hg19UCSC Ensembl
Innerchr8:130809979..130816103hg19UCSC Ensembl
Outerchr8:130809973..130816109hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386131
hg196131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618820
Supporting Variants
SamplesHG02283
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13327799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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