A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1350665



Internal ID12167101
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3989075
SamplesHuRef
Known GenesPIK3C2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1350665
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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