A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987252



Internal ID12637293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18742125..19247225hg38UCSC Ensembl
InnerchrX:18760243..19265343hg19UCSC Ensembl
InnerchrX:18670164..19175264hg18UCSC Ensembl
InnerchrX:18519900..19025000hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38505101
hg19505101
hg18505101
hg17505101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752317
Supporting Variants
SamplesSPC_42
Known GenesGPR64, PHKA2, PHKA2-AS1, PPEF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987252
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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