A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4265024



Internal ID11200876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43583148..43583652hg38UCSC Ensembl
chr21:45003029..45003533hg19UCSC Ensembl
chr21:43827457..43827961hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38505
hg19505
hg18505
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1180297
Supporting Variants
SamplesHuRef
Known GenesHSF2BP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4265024
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer