A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34500



Internal ID12990537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19375920..19534140hg38UCSC Ensembl
Innerchr7:19415543..19573763hg19UCSC Ensembl
Innerchr7:19382068..19540288hg18UCSC Ensembl
Innerchr7:19188783..19347003hg17UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38158221
hg19158221
hg18158221
hg17158221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987061, essv6990472, essv6980357, essv6980358, essv6980356
SamplesNA07345
Known Genes
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)esv34500
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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