A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985286



Internal ID12636381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88925061..90255387hg38UCSC Ensembl
Innerchr7:88554375..89884701hg19UCSC Ensembl
Innerchr7:88392311..89722637hg18UCSC Ensembl
Innerchr7:88199026..89529352hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg381330327
hg191330327
hg181330327
hg171330327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesC7orf63, DPY19L2P4, STEAP1, STEAP2, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985286
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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