A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985767



Internal ID12637308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:18691267..19257066hg38UCSC Ensembl
InnerchrX:18709386..19275184hg19UCSC Ensembl
InnerchrX:18619307..19185105hg18UCSC Ensembl
InnerchrX:18469043..19034841hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38565800
hg19565799
hg18565799
hg17565799
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985767
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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