A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891321



Internal ID18839031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7521515..7876431hg38UCSC Ensembl
Outerchr8:7368538..7974129hg38UCSC Ensembl
Innerchr8:7379037..7733953hg19UCSC Ensembl
Outerchr8:7226060..7831651hg19UCSC Ensembl
Innerchr8:7366447..7771363hg18UCSC Ensembl
Outerchr8:7213470..7869061hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38605592
hg19605592
hg18655592
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25779729, essv25788826, essv25799668, essv25779137, essv25790532, essv25792587, essv25780485, essv25792941, essv25785076, essv25783061, essv25790375, essv25790812, essv25789143, essv25789131, essv25781436, essv25789630, essv25790006, essv25789082, essv25789767, essv25792372, essv25788837, essv25780568, essv25791423, essv25790303
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L8, ZNF705B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891321
Frequency
Sample Size3017
Observed Gain16
Observed Loss8
Observed Complex0
Frequencyn/a


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