A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004336



Internal ID7069436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95608724..95619358hg38UCSC Ensembl
Outerchr12:96002500..96013134hg19UCSC Ensembl
Outerchr12:94526631..94537265hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3810635
hg1910635
hg1810635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563605
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004336
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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