A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983047



Internal ID12628045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:105705935..106434204hg38UCSC Ensembl
InnerchrX:104949928..105677434hg19UCSC Ensembl
InnerchrX:104836584..105564090hg18UCSC Ensembl
InnerchrX:104756073..105483579hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38728270
hg19727507
hg18727507
hg17727507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752312
Supporting Variants
SamplesBEC_536
Known GenesIL1RAPL2, MUM1L1, NRK, SERPINA7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983047
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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