A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595419



Internal ID6982737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:17355133..17359976hg38UCSC Ensembl
Innerchr3:17355633..17359476hg38UCSC Ensembl
Outerchr3:17354133..17360976hg38UCSC Ensembl
chr3:17396625..17401468hg19UCSC Ensembl
Innerchr3:17397125..17400968hg19UCSC Ensembl
Outerchr3:17395625..17402468hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384844
hg194844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10939162
SamplesHG02702
Known GenesTBC1D5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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