A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998250



Internal ID6734190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1084375..1092492hg38UCSC Ensembl
Outerchr12:1193541..1201658hg19UCSC Ensembl
Outerchr12:1063802..1071919hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg388118
hg198118
hg188118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565311
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998250
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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