A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987201



Internal ID12636383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88546234..90255435hg38UCSC Ensembl
Innerchr7:88175549..89884749hg19UCSC Ensembl
Innerchr7:88013485..89722685hg18UCSC Ensembl
Innerchr7:87820200..89529400hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381709202
hg191709201
hg181709201
hg171709201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesC7orf62, C7orf63, DPY19L2P4, STEAP1, STEAP2, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987201
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