A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993429



Internal ID6729386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70427950..70430811hg38UCSC Ensembl
Outerchr12:70821730..70824591hg19UCSC Ensembl
Outerchr12:69107997..69110858hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382862
hg192862
hg182862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564193
SamplesHuRef
Known GenesKCNMB4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993429
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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