A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752112



Internal ID12985664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168206528hg38UCSC Ensembl
Innerchr6:168335278..168607208hg19UCSC Ensembl
Innerchr6:168078127..168350057hg18UCSC Ensembl
Innerchr6:168153834..168425764hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38271931
hg19271931
hg18271931
hg17271931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218e55
Supporting Variantsessv6983955, essv6983954, essv6987456
SamplesBEC_737
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)esv2752112
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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