A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585331



Internal ID7056713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122853395..122853549hg38UCSC Ensembl
chr12:123337942..123338096hg19UCSC Ensembl
chr12:121903895..121904049hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38155
hg19155
hg18155
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005186
Supporting Variants
SamplesHuRef
Known GenesHIP1R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585331
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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