A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004870



Internal ID7069966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:52609535..52618057hg38UCSC Ensembl
Outerchr12:53003319..53011841hg19UCSC Ensembl
Outerchr12:51289586..51298108hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg388523
hg198523
hg188523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564523
SamplesHuRef
Known GenesKRT73
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004870
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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