A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5797751



Internal ID8775154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:128489573..128493079hg38UCSC Ensembl
Outerchr3:128489202..128493449hg38UCSC Ensembl
Innerchr3:128208416..128211922hg19UCSC Ensembl
Outerchr3:128208045..128212292hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657669
Supporting Variants
SamplesHG00309
Known GenesGATA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5797751
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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