A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34585



Internal ID12643936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6471402..6918342hg38UCSC Ensembl
InnerchrX:6389443..6836383hg19UCSC Ensembl
InnerchrX:6399443..6846383hg18UCSC Ensembl
InnerchrX:6249179..6696119hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38446941
hg19446941
hg18446941
hg17446941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265e55
Supporting Variantsessv6990215, essv6986576, essv6978258
SamplesNA18992
Known GenesVCX3A
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)esv34585
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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