A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646914



Internal ID7033656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34011416..34015184hg38UCSC Ensembl
chr21:35383717..35387485hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg383769
hg193769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313655, essv16313665, essv16313652, essv16313660, essv16313670, essv16313659, essv16313664, essv16313653, essv16313675, essv16313667, essv16313656, essv16313673, essv16313674, essv16313668, essv16313658, essv16313654, essv16313671, essv16313661, essv16313662, essv16313672, essv16313669, essv16313663, essv16313666, essv16313657
SamplesNA19700, HG02583, HG03111, HG02419, HG03069, HG02143, HG02561, HG03189, NA19917, HG02479, HG02820, NA18516, HG02953, HG03382, HG03391, NA19257, HG01272, HG03432, HG03049, HG03063, HG03077, HG03445, HG02851, HG00180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646914
Frequency
Sample Size2504
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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