A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988681



Internal ID12629712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8480453..8910093hg38UCSC Ensembl
InnerchrX:8448494..8878134hg19UCSC Ensembl
InnerchrX:8408494..8838134hg18UCSC Ensembl
InnerchrX:8258230..8687870hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38429641
hg19429641
hg18429641
hg17429641
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)essv6988681
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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