A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599335



Internal ID6986383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198053628..198058524hg38UCSC Ensembl
Innerchr3:198053655..198058497hg38UCSC Ensembl
Outerchr3:198053601..198058551hg38UCSC Ensembl
chr3:197780499..197785395hg19UCSC Ensembl
Innerchr3:197780526..197785368hg19UCSC Ensembl
Outerchr3:197780472..197785422hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384897
hg194897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11312954
SamplesHG02013
Known GenesANKRD18DP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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