A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985910



Internal ID12637548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:99783283..100513048hg38UCSC Ensembl
InnerchrX:99038281..99768045hg19UCSC Ensembl
InnerchrX:98924937..99654701hg18UCSC Ensembl
InnerchrX:98844426..99574190hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38729766
hg19729765
hg18729765
hg17729765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752340
Supporting Variants
SamplesSPC_83
Known GenesPCDH19, XRCC6P5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985910
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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