A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11225683



Internal ID3385270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171728449..171729677hg38UCSC Ensembl
Innerchr3:171728453..171729673hg38UCSC Ensembl
Outerchr3:171728445..171729681hg38UCSC Ensembl
chr3:171446239..171447467hg19UCSC Ensembl
Innerchr3:171446243..171447463hg19UCSC Ensembl
Outerchr3:171446235..171447471hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598651
Supporting Variants
SamplesHG03028
Known GenesPLD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11225683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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