A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577016



Internal ID6701712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120733538..120733597hg38UCSC Ensembl
chr12:121171341..121171400hg19UCSC Ensembl
chr12:119655724..119655783hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004916
Supporting Variants
SamplesHuRef
Known GenesACADS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577016
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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