A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788497



Internal ID18832423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:103796156..104449969hg38UCSC Ensembl
Innerchr7:103436603..104090417hg19UCSC Ensembl
Innerchr7:103223839..103877653hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38653814
hg19653815
hg18653815
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891172
Supporting Variants
Samples
Known GenesLHFPL3, ORC5, RELN
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=203
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788497
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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