A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752317



Internal ID1697583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18709386..19310421hg19UCSC Ensembl
InnerchrX:18619307..19220342hg18UCSC Ensembl
InnerchrX:18469043..19070078hg17UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6985767, essv6987252, essv6985769, essv6985768
SamplesSPC_42
Known GenesGPR64, LOC100132163, PHKA2, PPEF1
Method
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set (Pinto2007.txt)
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752317
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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