A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979648



Internal ID12633818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40045398..40191366hg38UCSC Ensembl
Innerchr7:40084997..40230965hg19UCSC Ensembl
Innerchr7:40051522..40197490hg18UCSC Ensembl
Innerchr7:39858237..40004205hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38145969
hg19145969
hg18145969
hg17145969
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34547
Supporting Variants
SamplesNA18592
Known GenesC7orf10, CDK13, MPLKIP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979648
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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