A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1705858



Internal ID12522290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26775947..26775947hg38UCSC Ensembl
chr12:26928880..26928880hg19UCSC Ensembl
chr12:26820147..26820147hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38108
hg19108
hg18108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3847349
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1705858
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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