A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891198



Internal ID19185594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:121885430..123886905hg38UCSC Ensembl
Outerchr7:121885430..123886905hg38UCSC Ensembl
Innerchr7:121525484..123526959hg19UCSC Ensembl
Outerchr7:121525484..123526959hg19UCSC Ensembl
Innerchr7:121312720..123314195hg18UCSC Ensembl
Outerchr7:121312720..123314195hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg382001476
hg192001476
hg182001476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791124
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
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891198
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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