A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983509



Internal ID12629714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8480452..8798253hg38UCSC Ensembl
InnerchrX:8448493..8766294hg19UCSC Ensembl
InnerchrX:8408493..8726294hg18UCSC Ensembl
InnerchrX:8258229..8576030hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38317802
hg19317802
hg18317802
hg17317802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752339
Supporting Variants
SamplesBEC_662
Known GenesFAM9A, KAL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983509
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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