A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34883



Internal ID12990919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33357198..34607398hg38UCSC Ensembl
Innerchr12:33510133..34760333hg19UCSC Ensembl
Innerchr12:33401400..34651600hg18UCSC Ensembl
Innerchr12:33401400..34651600hg17UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg381250201
hg191250201
hg181250201
hg171250201
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990473, essv6987064, essv6980366, essv6987063
SamplesNA07357
Known GenesALG10, SYT10
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)esv34883
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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