A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980775



Internal ID12625285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:3048965..3235433hg38UCSC Ensembl
InnerchrX:2967006..3153474hg19UCSC Ensembl
InnerchrX:2977006..3163474hg18UCSC Ensembl
InnerchrX:2960367..3146835hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38186469
hg19186469
hg18186469
hg17186469
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)essv6980775
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer