A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988599



Internal ID7075755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52563886..52568558hg38UCSC Ensembl
Outerchr12:52957670..52962342hg19UCSC Ensembl
Outerchr12:51243937..51248609hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg384673
hg194673
hg184673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565806
SamplesHuRef
Known GenesKRT74
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988599
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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