A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986248



Internal ID12628732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7862723..8417451hg38UCSC Ensembl
InnerchrX:7830764..8385492hg19UCSC Ensembl
InnerchrX:7790764..8345492hg18UCSC Ensembl
InnerchrX:7640500..8195228hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38554729
hg19554729
hg18554729
hg17554729
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986248
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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