A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11232291



Internal ID5080180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:175247093..175248079hg38UCSC Ensembl
Innerchr3:175247093..175248079hg38UCSC Ensembl
Outerchr3:175246835..175248431hg38UCSC Ensembl
chr3:174964882..174965868hg19UCSC Ensembl
Innerchr3:174964882..174965868hg19UCSC Ensembl
Outerchr3:174964624..174966220hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38987
hg19987
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598741
Supporting Variants
SamplesNA18544
Known GenesNAALADL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11232291
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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