A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891168



Internal ID18838878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:102528838..102625029hg38UCSC Ensembl
Outerchr7:102487446..102693659hg38UCSC Ensembl
Innerchr7:102169285..102265476hg19UCSC Ensembl
Outerchr7:102127893..102334106hg19UCSC Ensembl
Innerchr7:101956290..102052702hg18UCSC Ensembl
Outerchr7:101914898..102121342hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38206214
hg19206214
hg18206445
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790985, essv25779972, essv25787338, essv25780656, essv25799041, essv25792508, essv25784758, essv25780414, essv25786784, essv25785967, essv25780710, essv25781498, essv25781686, essv25789029, essv25779829, essv25798654, essv25781420, essv25780368, essv25780143, essv25799983
Samples
Known GenesPOLR2J2, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B, UPK3BL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891168
Frequency
Sample Size3017
Observed Gain3
Observed Loss17
Observed Complex0
Frequencyn/a


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