A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574417



Internal ID6699113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112833559..112833559hg38UCSC Ensembl
chr12:113271364..113271364hg19UCSC Ensembl
chr12:111755747..111755747hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987835
Supporting Variants
SamplesHuRef
Known GenesRPH3A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574417
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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