A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790408



Internal ID19178259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:112454688..112694890hg38UCSC Ensembl
Innerchr7:112094743..112334945hg19UCSC Ensembl
Innerchr7:111881979..112122181hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38240203
hg19240203
hg18240203
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891194
Supporting Variants
Samples
Known GenesIFRD1, LSMEM1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=51
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790408
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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