A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986249



Internal ID12628750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7862876..8441167hg38UCSC Ensembl
InnerchrX:7830917..8409208hg19UCSC Ensembl
InnerchrX:7790917..8369208hg18UCSC Ensembl
InnerchrX:7640653..8218944hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38578292
hg19578292
hg18578292
hg17578292
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)essv6986249
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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