A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979649



Internal ID12633817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40046161..40122061hg38UCSC Ensembl
Innerchr7:40085760..40161660hg19UCSC Ensembl
Innerchr7:40052285..40128185hg18UCSC Ensembl
Innerchr7:39859000..39934900hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3875901
hg1975901
hg1875901
hg1775901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34547
Supporting Variants
SamplesNA18592
Known GenesCDK13
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979649
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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