A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982410



Internal ID12973687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:37930660..38116792hg38UCSC Ensembl
InnerchrX:37789913..37976045hg19UCSC Ensembl
InnerchrX:37674857..37860989hg18UCSC Ensembl
InnerchrX:37546130..37732262hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38186133
hg19186133
hg18186133
hg17186133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752323
Supporting Variants
SamplesBEC_437
Known GenesCXorf27, SYTL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982410
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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