A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993337



Internal ID6729297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123753086..123753165hg38UCSC Ensembl
chr12:124237633..124237712hg19UCSC Ensembl
chr12:122803586..122803665hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3573301
SamplesHuRef
Known GenesATP6V0A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993337
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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