A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4272688



Internal ID11555226
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1408895
Supporting Variants
SamplesHuRef
Known GenesCD163L1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4272688
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer