A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13236975



Internal ID2911029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77602065..77645834hg38UCSC Ensembl
Innerchr8:77602565..77645334hg38UCSC Ensembl
Outerchr8:77601065..77646834hg38UCSC Ensembl
chr8:78514301..78558070hg19UCSC Ensembl
Innerchr8:78514801..78557570hg19UCSC Ensembl
Outerchr8:78513301..78559070hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3843770
hg1943770
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617720
Supporting Variants
SamplesHG02577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13236975
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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