A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633695



Internal ID7020503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20886539..20948460hg38UCSC Ensembl
chr14:21354698..21416619hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3861922
hg1961922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv380e214
Supporting Variantsessv14925789, essv14925758, essv14925779, essv14925762, essv14925787, essv14925780, essv14925767, essv14925760, essv14925777, essv14925761, essv14925776, essv14925774, essv14925772, essv14925785, essv14925786, essv14925771, essv14925764, essv14925778, essv14925784, essv14925763, essv14925782, essv14925773, essv14925765, essv14925770, essv14925788, essv14925769, essv14925775, essv14925781, essv14925768, essv14925783, essv14925766, essv14925759
SamplesHG00102, HG01610, NA18979, HG03015, HG02078, NA18603, NA19067, HG03016, HG02299, NA19782, HG00537, HG01110, HG02082, HG00406, HG03491, NA18637, HG03756, NA18948, NA18646, HG01148, HG01444, NA19747, HG01253, NA19090, NA18591, HG01342, NA12347, NA06986, NA19078, HG04023, HG01431, HG01695
Known GenesECRP, RNASE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633695
Frequency
Sample Size2504
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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