A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983268



Internal ID12975071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112794358..112859869hg38UCSC Ensembl
Innerchr7:112434413..112499924hg19UCSC Ensembl
Innerchr7:112221649..112287160hg18UCSC Ensembl
Innerchr7:112028364..112093875hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3865512
hg1965512
hg1865512
hg1765512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752144
Supporting Variants
SamplesBEC_560
Known GenesC7orf60
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983268
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