A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988316



Internal ID12625311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152492884..152688270hg38UCSC Ensembl
Innerchr1:152465360..152660746hg19UCSC Ensembl
Innerchr1:150731984..150927370hg18UCSC Ensembl
Innerchr1:149278433..149473819hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38195387
hg19195387
hg18195387
hg17195387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750810
Supporting Variants
SamplesBEC_158
Known GenesCRCT1, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE5A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988316
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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