A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752144



Internal ID12985696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112758317..112859869hg38UCSC Ensembl
Innerchr7:112398372..112499924hg19UCSC Ensembl
Innerchr7:112185608..112287160hg18UCSC Ensembl
Innerchr7:111992323..112093875hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38101553
hg19101553
hg18101553
hg17101553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983268, essv6986388
SamplesBEC_560
Known GenesC7orf60, TMEM168
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)esv2752144
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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