A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599337



Internal ID6986385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198068400..198069842hg38UCSC Ensembl
Innerchr3:198068466..198069777hg38UCSC Ensembl
Outerchr3:198068335..198069908hg38UCSC Ensembl
chr3:197795271..197796713hg19UCSC Ensembl
Innerchr3:197795337..197796648hg19UCSC Ensembl
Outerchr3:197795206..197796779hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11312992, essv11312993
SamplesHG02722, HG02983
Known GenesANKRD18DP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599337
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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