A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633817



Internal ID7020623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:25028483..25030004hg38UCSC Ensembl
Innerchr14:25028488..25030000hg38UCSC Ensembl
Outerchr14:25028479..25030009hg38UCSC Ensembl
chr14:25497689..25499210hg19UCSC Ensembl
Innerchr14:25497694..25499206hg19UCSC Ensembl
Outerchr14:25497685..25499215hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381522
hg191522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14943204, essv14943205, essv14943194, essv14943200, essv14943196, essv14943199, essv14943197, essv14943203, essv14943195, essv14943201, essv14943198, essv14943202
SamplesNA19141, NA18861, HG03172, HG02536, HG03079, HG02427, HG03085, HG03117, HG03304, HG02971, HG02462, NA19096
Known GenesSTXBP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633817
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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