A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11181204



Internal ID1961335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149790211..149804976hg38UCSC Ensembl
Innerchr3:149790211..149804976hg38UCSC Ensembl
Outerchr3:149789711..149805476hg38UCSC Ensembl
chr3:149507998..149522763hg19UCSC Ensembl
Innerchr3:149507998..149522763hg19UCSC Ensembl
Outerchr3:149507498..149523263hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3814766
hg1914766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598148
Supporting Variants
SamplesHG01813
Known GenesANKUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11181204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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