A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983506



Internal ID12629721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:8398685..8798250hg38UCSC Ensembl
InnerchrX:8366726..8766291hg19UCSC Ensembl
InnerchrX:8326726..8726291hg18UCSC Ensembl
InnerchrX:8176462..8576027hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38399566
hg19399566
hg18399566
hg17399566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752339
Supporting Variants
SamplesBEC_662
Known GenesFAM9A, KAL1, VCX3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983506
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer