A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987101



Internal ID12627565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10801393..10949239hg38UCSC Ensembl
Innerchr7:10841020..10988866hg19UCSC Ensembl
Innerchr7:10807545..10955391hg18UCSC Ensembl
Innerchr7:10614260..10762106hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38147847
hg19147847
hg18147847
hg17147847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752140
Supporting Variants
SamplesBEC_510
Known GenesNDUFA4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987101
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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