A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978659



Internal ID12632213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6564051..6918342hg38UCSC Ensembl
InnerchrX:6482092..6836383hg19UCSC Ensembl
InnerchrX:6492092..6846383hg18UCSC Ensembl
InnerchrX:6341828..6696119hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38354292
hg19354292
hg18354292
hg17354292
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978659
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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