A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983251



Internal ID12975055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141259330..141655766hg38UCSC Ensembl
InnerchrX:140353461..140743898hg19UCSC Ensembl
InnerchrX:140181127..140571564hg18UCSC Ensembl
InnerchrX:140078981..140469418hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38396437
hg19390438
hg18390438
hg17390438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752315
Supporting Variants
SamplesBEC_559
Known GenesSPANXA1, SPANXA2, SPANXA2-OT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983251
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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