A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1408895



Internal ID12572017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7437266..7437266hg38UCSC Ensembl
chr12:7589862..7589862hg19UCSC Ensembl
chr12:7481129..7481129hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4272688
SamplesHuRef
Known GenesCD163L1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1408895
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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