A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13327795



Internal ID5514054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129780889..129781977hg38UCSC Ensembl
Innerchr8:129780904..129781962hg38UCSC Ensembl
Outerchr8:129780874..129781992hg38UCSC Ensembl
chr8:130793135..130794223hg19UCSC Ensembl
Innerchr8:130793150..130794208hg19UCSC Ensembl
Outerchr8:130793120..130794238hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618818
Supporting Variants
SamplesNA18990
Known GenesGSDMC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13327795
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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