A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1488435



Internal ID12304871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120733555..120733615hg38UCSC Ensembl
chr12:121171358..121171418hg19UCSC Ensembl
chr12:119655741..119655801hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3781841
SamplesHuRef
Known GenesACADS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1488435
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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