A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11312992



Internal ID3096810
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599337
Supporting Variants
SamplesHG02722
Known GenesANKRD18DP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11312992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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