A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982702



Internal ID12628720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:75569787..75984969hg38UCSC Ensembl
InnerchrX:74789622..75204804hg19UCSC Ensembl
InnerchrX:74706347..75121527hg18UCSC Ensembl
InnerchrX:74572643..74987823hg17UCSC Ensembl
CytobandXq13.3
Allele length
AssemblyAllele length
hg38415183
hg19415183
hg18415181
hg17415181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752334
Supporting Variants
SamplesBEC_580
Known GenesMAGEE2, TTC3P1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982702
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