A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986383



Internal ID12975067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:141280089..141664534hg38UCSC Ensembl
InnerchrX:140374229..140752682hg19UCSC Ensembl
InnerchrX:140201895..140580348hg18UCSC Ensembl
InnerchrX:140099749..140478202hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38384446
hg19378454
hg18378454
hg17378454
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986383
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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