A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978370



Internal ID12635159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17128236..17378136hg38UCSC Ensembl
Innerchr7:17167860..17417760hg19UCSC Ensembl
Innerchr7:17134385..17384285hg18UCSC Ensembl
Innerchr7:16941100..17191000hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38249901
hg19249901
hg18249901
hg17249901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34717
Supporting Variants
SamplesNA19007
Known GenesAHR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978370
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