A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1346224



Internal ID12162660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121851690..121852035hg38UCSC Ensembl
chr12:122289596..122289941hg19UCSC Ensembl
chr12:120773979..120774324hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3907206
SamplesHuRef
Known GenesHPD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1346224
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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