A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4227590



Internal ID11510128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82982561..82982561hg38UCSC Ensembl
chr17:80940437..80940437hg19UCSC Ensembl
chr17:78533726..78533726hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1055866
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4227590
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