A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5643270



Internal ID9705230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49301395..49304013hg38UCSC Ensembl
chr8:50213954..50216572hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677761
Supporting Variants
SamplesNA19455
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5643270
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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