A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985909



Internal ID12637534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:99231803..100435903hg38UCSC Ensembl
InnerchrX:98486801..99690901hg19UCSC Ensembl
InnerchrX:98373457..99577557hg18UCSC Ensembl
InnerchrX:98292946..99497046hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg381204101
hg191204101
hg181204101
hg171204101
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)essv6985909
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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