A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4081195



Internal ID11333994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14161139..14161139hg38UCSC Ensembl
chr11:14182685..14182685hg19UCSC Ensembl
chr11:14139261..14139261hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1763444
Supporting Variants
SamplesHuRef
Known GenesSPON1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4081195
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