A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1766563



Internal ID12929681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50009026..50009026hg38UCSC Ensembl
chr12:50402809..50402809hg19UCSC Ensembl
chr12:48689076..48689076hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3869519
SamplesHuRef
Known GenesRACGAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1766563
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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