A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11225498



Internal ID492276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171324001..171325723hg38UCSC Ensembl
Innerchr3:171324001..171325723hg38UCSC Ensembl
Outerchr3:171323769..171325999hg38UCSC Ensembl
chr3:171041790..171043512hg19UCSC Ensembl
Innerchr3:171041790..171043512hg19UCSC Ensembl
Outerchr3:171041558..171043788hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381723
hg191723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598647
Supporting Variants
SamplesHG00174
Known GenesTNIK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11225498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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