A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3979486



Internal ID11435701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31431987..31431987hg38UCSC Ensembl
chr1:31904834..31904834hg19UCSC Ensembl
chr1:31677421..31677421hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1133300
Supporting Variants
SamplesHuRef
Known GenesSERINC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3979486
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