A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4016267



Internal ID11745606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6403579..6403579hg38UCSC Ensembl
chr12:6512745..6512745hg19UCSC Ensembl
chr12:6383006..6383006hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38688
hg19688
hg18688
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1397088
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4016267
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