A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986181



Internal ID12973779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:79874088..79982959hg38UCSC Ensembl
InnerchrX:79129588..79238458hg19UCSC Ensembl
InnerchrX:79016244..79125114hg18UCSC Ensembl
InnerchrX:78935733..79044603hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38108872
hg19108871
hg18108871
hg17108871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752337
Supporting Variants
SamplesBEC_447
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986181
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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