A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989854



Internal ID12975906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136813730hg38UCSC Ensembl
Innerchr8:137687955..137825973hg19UCSC Ensembl
Innerchr8:137757137..137895155hg18UCSC Ensembl
Innerchr8:137757137..137895155hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38138019
hg19138019
hg18138019
hg17138019
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752214
Supporting Variants
SamplesBEC_625
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989854
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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