A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1456600



Internal ID12619722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109194510..109194610hg38UCSC Ensembl
chr12:109632315..109632415hg19UCSC Ensembl
chr12:108116698..108116798hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3652338
SamplesHuRef
Known GenesACACB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1456600
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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