A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985215



Internal ID12636277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:232462519..233210519hg38UCSC Ensembl
Innerchr1:232598265..233346265hg19UCSC Ensembl
Innerchr1:230664888..231412888hg18UCSC Ensembl
Innerchr1:228905000..229653000hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38748001
hg19748001
hg18748001
hg17748001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750829
Supporting Variants
SamplesSPC_127
Known GenesMAP10, NTPCR, PCNXL2, SIPA1L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985215
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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