A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596104



Internal ID6636377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48309074..48314262hg38UCSC Ensembl
Innerchr3:48309074..48314262hg38UCSC Ensembl
Outerchr3:48308860..48314448hg38UCSC Ensembl
chr3:48350564..48355752hg19UCSC Ensembl
Innerchr3:48350564..48355752hg19UCSC Ensembl
Outerchr3:48350350..48355938hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg385189
hg195189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11004521
SamplesHG00278
Known GenesSPINK8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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