A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571978



Internal ID6696674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29420482..29420822hg38UCSC Ensembl
chr12:29573415..29573755hg19UCSC Ensembl
chr12:29464682..29465022hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38341
hg19341
hg18341
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997212
Supporting Variants
SamplesHuRef
Known GenesOVCH1-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571978
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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