A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3989075



Internal ID11426112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204471092..204471242hg38UCSC Ensembl
chr1:204440220..204440370hg19UCSC Ensembl
chr1:202706843..202706993hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1350665
Supporting Variants
SamplesHuRef
Known GenesPIK3C2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3989075
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