A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4031401



Internal ID11383787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19387155..19387307hg38UCSC Ensembl
chr8:19244666..19244818hg19UCSC Ensembl
chr8:19288946..19289098hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1412941
Supporting Variants
SamplesHuRef
Known GenesSH2D4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4031401
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