A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3652338



Internal ID12109530
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1456600
Supporting Variants
SamplesHuRef
Known GenesACACB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3652338
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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