A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1233172



Internal ID12049609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92701963..92701963hg38UCSC Ensembl
chr1:93167520..93167520hg19UCSC Ensembl
chr1:92940108..92940108hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4322889
SamplesHuRef
Known GenesEVI5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1233172
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