A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980776



Internal ID12625286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3094991..3225357hg38UCSC Ensembl
InnerchrX:3013032..3143398hg19UCSC Ensembl
InnerchrX:3023032..3153398hg18UCSC Ensembl
InnerchrX:3006393..3136759hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38130367
hg19130367
hg18130367
hg17130367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752320
Supporting Variants
SamplesBEC_148
Known GenesARSF
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980776
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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