A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011072



Internal ID7075023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:101240014..101244174hg38UCSC Ensembl
Outerchr13:101892365..101896525hg19UCSC Ensembl
Outerchr13:100690366..100694526hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384161
hg194161
hg184161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564624
SamplesHuRef
Known GenesNALCN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011072
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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