A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000864



Internal ID6713006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358000..26358911hg38UCSC Ensembl
Outerchr12:26510933..26511844hg19UCSC Ensembl
Outerchr12:26402200..26403111hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38912
hg19912
hg18912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565058
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000864
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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