A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1209367



Internal ID12025804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:521119..521119hg38UCSC Ensembl
chr6:521119..521119hg19UCSC Ensembl
chr6:466119..466119hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3882671
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1209367
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