A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1142574



Internal ID11959014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:511420..511718hg38UCSC Ensembl
chr12:620586..620884hg19UCSC Ensembl
chr12:490847..491145hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4130309
SamplesHuRef
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1142574
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer