A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3884163



Internal ID11877708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151040605..151040605hg38UCSC Ensembl
chr1:151013081..151013081hg19UCSC Ensembl
chr1:149279705..149279705hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1745722
Supporting Variants
SamplesHuRef
Known GenesBNIPL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3884163
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