A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752188



Internal ID12639054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88546210..90255435hg38UCSC Ensembl
Innerchr7:88175525..89884749hg19UCSC Ensembl
Innerchr7:88013461..89722685hg18UCSC Ensembl
Innerchr7:87820176..89529400hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg381709226
hg191709225
hg181709225
hg171709225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985283, essv6985286, essv6985285, essv6985284, essv6987203, essv6988914, essv6985282, essv6987201, essv6987202
SamplesSPC_136
Known GenesC7orf62, C7orf63, DPY19L2P4, STEAP1, STEAP2, ZNF804B
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)esv2752188
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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