A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752268



Internal ID12639134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83893110..84989630hg38UCSC Ensembl
Innerchr8:84805345..85901865hg19UCSC Ensembl
Innerchr8:84967900..86064700hg18UCSC Ensembl
Innerchr8:84967900..86064700hg17UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381096521
hg191096521
hg181096801
hg171096801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982848, essv6986284, essv6986283, essv6988593, essv6982849
SamplesBEC_604
Known GenesRALYL
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752268
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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