A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5575361



Internal ID8552764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:103205584..103207727hg38UCSC Ensembl
Outerchr8:103205427..103207880hg38UCSC Ensembl
Innerchr8:104217812..104219955hg19UCSC Ensembl
Outerchr8:104217655..104220108hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678140
Supporting Variants
SamplesHG00418
Known GenesBAALC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5575361
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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