A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981553



Internal ID12972302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:55878090..55964201hg38UCSC Ensembl
Innerchr8:56790649..56876760hg19UCSC Ensembl
Innerchr8:56953203..57039314hg18UCSC Ensembl
Innerchr8:56953203..57039314hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3886112
hg1986112
hg1886112
hg1786112
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752257
Supporting Variants
SamplesBEC_299
Known GenesLYN
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981553
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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