A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985294



Internal ID12983076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:117371197..117428310hg38UCSC Ensembl
InnerchrX:116505160..116562273hg19UCSC Ensembl
InnerchrX:116389188..116446301hg18UCSC Ensembl
InnerchrX:116287042..116344155hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3857114
hg1957114
hg1857114
hg1757114
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752313
Supporting Variants
SamplesSPC_138
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985294
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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