A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982712



Internal ID12628736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7862723..8469952hg38UCSC Ensembl
InnerchrX:7830764..8437993hg19UCSC Ensembl
InnerchrX:7790764..8397993hg18UCSC Ensembl
InnerchrX:7640500..8247729hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38607230
hg19607230
hg18607230
hg17607230
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, VCX3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982712
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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