A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752340



Internal ID12639206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:99231803..100513048hg38UCSC Ensembl
InnerchrX:98486801..99768045hg19UCSC Ensembl
InnerchrX:98373457..99654701hg18UCSC Ensembl
InnerchrX:98292946..99574190hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381281246
hg191281245
hg181281245
hg171281245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985909, essv6985910
SamplesSPC_83
Known GenesPCDH19, XRCC6P5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752340
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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