A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1263874



Internal ID12080311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358104..26358436hg38UCSC Ensembl
chr12:26511037..26511369hg19UCSC Ensembl
chr12:26402304..26402636hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4180252
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1263874
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