A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635538



Internal ID6675651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101932639..102076323hg38UCSC Ensembl
Innerchr14:101932789..102076173hg38UCSC Ensembl
Outerchr14:101932489..102076473hg38UCSC Ensembl
chr14:102398976..102542660hg19UCSC Ensembl
Innerchr14:102399126..102542510hg19UCSC Ensembl
Outerchr14:102398826..102542810hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38143685
hg19143685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15109145, essv15109144
SamplesNA12341, NA06984
Known GenesDYNC1H1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635538
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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