A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987594



Internal ID12630295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167943158..168226390hg38UCSC Ensembl
Innerchr6:168343838..168627070hg19UCSC Ensembl
Innerchr6:168086687..168369919hg18UCSC Ensembl
Innerchr6:168162394..168445626hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38283233
hg19283233
hg18283233
hg17283233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752100
Supporting Variants
SamplesBEC_705
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987594
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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