A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791124



Internal ID18824106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121885430..123886905hg38UCSC Ensembl
Innerchr7:121525484..123526959hg19UCSC Ensembl
Innerchr7:121312720..123314195hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg382001476
hg192001476
hg182001476
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891198
Supporting Variants
Samples
Known GenesAASS, ASB15, CADPS2, FEZF1, FEZF1-AS1, HYAL4, HYALP1, IQUB, LMOD2, NDUFA5, PTPRZ1, RNF133, RNF148, SLC13A1, TAS2R16, WASL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=336
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791124
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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