A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987426



Internal ID12629270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48044028..48312605hg38UCSC Ensembl
InnerchrX:47903420..48172040hg19UCSC Ensembl
InnerchrX:47788364..48056984hg18UCSC Ensembl
InnerchrX:47659674..47928294hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38268578
hg19268621
hg18268621
hg17268621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752324
Supporting Variants
SamplesBEC_629
Known GenesSPACA5, SPACA5B, SSX1, SSX5, SSX6, SSX9, ZNF630
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987426
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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