A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1462855



Internal ID12279291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132242437..132242977hg38UCSC Ensembl
chr12:132818362..132819037hg19UCSC Ensembl
chr12:131328435..131329110hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38541
hg19676
hg18676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3899888
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1462855
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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