A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598653



Internal ID6985789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171857825..171858735hg38UCSC Ensembl
Innerchr3:171857827..171858733hg38UCSC Ensembl
Outerchr3:171857823..171858737hg38UCSC Ensembl
chr3:171575615..171576525hg19UCSC Ensembl
Innerchr3:171575617..171576523hg19UCSC Ensembl
Outerchr3:171575613..171576527hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38911
hg19911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11225691, essv11225693, essv11225697, essv11225695, essv11225689, essv11225690, essv11225688, essv11225686, essv11225685, essv11225687, essv11225696, essv11225692, essv11225694
SamplesHG03378, HG03558, NA20294, NA19379, HG02620, NA20287, HG02143, HG02953, NA19461, NA19308, NA19037, HG03063, HG03258
Known GenesTMEM212
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598653
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer