A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788100



Internal ID18816870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66376216..66777606hg38UCSC Ensembl
Innerchr7:65841203..66242593hg19UCSC Ensembl
Innerchr7:65478638..65880028hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38401391
hg19401391
hg18401391
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891135
Supporting Variants
Samples
Known GenesKCTD7, LINC00174, LOC493754, RABGEF1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788100
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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