A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010818



Internal ID7074769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116651851..116655658hg38UCSC Ensembl
Outerchr12:117089656..117093463hg19UCSC Ensembl
Outerchr12:115574039..115577846hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383808
hg193808
hg183808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565631
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010818
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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