A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982713



Internal ID12628735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7862873..8441163hg38UCSC Ensembl
InnerchrX:7830914..8409204hg19UCSC Ensembl
InnerchrX:7790914..8369204hg18UCSC Ensembl
InnerchrX:7640650..8218940hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38578291
hg19578291
hg18578291
hg17578291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752335
Supporting Variants
SamplesBEC_581
Known GenesMIR651, PNPLA4, VCX2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982713
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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