A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984650



Internal ID12983275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101352351..101492117hg38UCSC Ensembl
Innerchr7:100995632..101135398hg19UCSC Ensembl
Innerchr7:100782352..100922118hg18UCSC Ensembl
Innerchr7:100589067..100728833hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38139767
hg19139767
hg18139767
hg17139767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752137
Supporting Variants
SamplesSPC_162
Known GenesCOL26A1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984650
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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