A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4309008



Internal ID11591546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202769038..202769362hg38UCSC Ensembl
chr1:202738166..202738490hg19UCSC Ensembl
chr1:201004789..201005113hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1740431
Supporting Variants
SamplesHuRef
Known GenesKDM5B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4309008
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