A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752315



Internal ID12985867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141259330..141664534hg38UCSC Ensembl
InnerchrX:140353461..140752682hg19UCSC Ensembl
InnerchrX:140181127..140580348hg18UCSC Ensembl
InnerchrX:140078981..140478202hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38405205
hg19399222
hg18399222
hg17399222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983251, essv6986383
SamplesBEC_559
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
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)esv2752315
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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