A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752123



Internal ID12638989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31420190..31478769hg38UCSC Ensembl
Innerchr6:31387967..31446546hg19UCSC Ensembl
Innerchr6:31495946..31554525hg18UCSC Ensembl
Innerchr6:31495946..31554525hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3858580
hg1958580
hg1858580
hg1758580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982836, essv6982837, essv6986279, essv6986280, essv6988591
SamplesBEC_603
Known GenesHCG26, HCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752123
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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