A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987145



Internal ID12631313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88546210..88995334hg38UCSC Ensembl
Innerchr7:88175525..88624648hg19UCSC Ensembl
Innerchr7:88013461..88462584hg18UCSC Ensembl
Innerchr7:87820176..88269299hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38449125
hg19449124
hg18449124
hg17449124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752187
Supporting Variants
SamplesBEC_9
Known GenesC7orf62, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987145
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