A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646973



Internal ID6687029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36485278..36490433hg38UCSC Ensembl
chr21:37857576..37862731hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg385156
hg195156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16319727, essv16319725, essv16319722, essv16319736, essv16319733, essv16319731, essv16319724, essv16319729, essv16319721, essv16319723, essv16319730, essv16319732, essv16319734, essv16319728, essv16319726, essv16319737, essv16319738, essv16319735
SamplesHG03548, NA20298, HG03126, HG03074, NA20412, HG03380, HG03160, HG03547, HG03472, NA19774, HG01107, HG01174, HG03433, NA19428, HG01085, NA19312, HG03376, HG02284
Known GenesCLDN14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646973
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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