A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3912748



Internal ID11502437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132291130..132291265hg38UCSC Ensembl
chr12:132867716..132867851hg19UCSC Ensembl
chr12:131377789..131377924hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1160630
Supporting Variants
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3912748
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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