A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573301



Internal ID6697998
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993337
Supporting Variants
SamplesHuRef
Known GenesATP6V0A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573301
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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