A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11312948



Internal ID826759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198044904..198077565hg38UCSC Ensembl
chr3:197771775..197804436hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3832662
hg1932662
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599334
Supporting Variants
SamplesHG00410
Known GenesANKRD18DP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11312948
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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