A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752317



Internal ID12639183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18691267..19292303hg38UCSC Ensembl
InnerchrX:18709386..19310421hg19UCSC Ensembl
InnerchrX:18619307..19220342hg18UCSC Ensembl
InnerchrX:18469043..19070078hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38601037
hg19601036
hg18601036
hg17601036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985768, essv6985767, essv6987252, essv6985769
SamplesSPC_42
Known GenesGPR64, PHKA2, PHKA2-AS1, PPEF1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752317
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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