A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752324



Internal ID12639190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:47994483..48312605hg38UCSC Ensembl
InnerchrX:47853884..48172040hg19UCSC Ensembl
InnerchrX:47738828..48056984hg18UCSC Ensembl
InnerchrX:47610138..47928294hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38318123
hg19318157
hg18318157
hg17318157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987426, essv6983815
SamplesBEC_629
Known GenesSPACA5, SPACA5B, SSX1, SSX5, SSX6, SSX9, ZNF182, ZNF630
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)esv2752324
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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