A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1562553



Internal ID12378988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26497492..26497492hg38UCSC Ensembl
chr12:26650425..26650425hg19UCSC Ensembl
chr12:26541692..26541692hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4068263
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1562553
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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