A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1137133



Internal ID12300256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71962837..71964401hg38UCSC Ensembl
chr12:72356617..72358181hg19UCSC Ensembl
chr12:70642884..70644448hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4166864
SamplesHuRef
Known GenesTPH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1137133
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