A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978660



Internal ID12632212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6577241..6832539hg38UCSC Ensembl
InnerchrX:6495282..6750580hg19UCSC Ensembl
InnerchrX:6505282..6760580hg18UCSC Ensembl
InnerchrX:6355018..6610316hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38255299
hg19255299
hg18255299
hg17255299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35137
Supporting Variants
SamplesNA12057
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978660
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