A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597831



Internal ID6984969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132729669..132733672hg38UCSC Ensembl
Innerchr3:132729672..132733670hg38UCSC Ensembl
Outerchr3:132729667..132733675hg38UCSC Ensembl
chr3:132448513..132452516hg19UCSC Ensembl
Innerchr3:132448516..132452514hg19UCSC Ensembl
Outerchr3:132448511..132452519hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv938e214
Supporting Variantsessv11154496
SamplesHG03112
Known GenesNPHP3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597831
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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