A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986388



Internal ID12975073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112758317..112842662hg38UCSC Ensembl
Innerchr7:112398372..112482717hg19UCSC Ensembl
Innerchr7:112185608..112269953hg18UCSC Ensembl
Innerchr7:111992323..112076668hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3884346
hg1984346
hg1884346
hg1784346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752144
Supporting Variants
SamplesBEC_560
Known GenesC7orf60, TMEM168
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986388
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