A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893723



Internal ID19184543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73669440..74246497hg38UCSC Ensembl
Outerchr1:73643288..74246497hg38UCSC Ensembl
Innerchr1:74135123..74712181hg19UCSC Ensembl
Outerchr1:74108971..74712181hg19UCSC Ensembl
Innerchr1:73907711..74484769hg18UCSC Ensembl
Outerchr1:73881559..74484769hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38603210
hg19603211
hg18603211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790397, essv25788453
Samples
Known GenesFPGT, FPGT-TNNI3K, LRRIQ3, TNNI3K
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893723
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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