A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646888



Internal ID6686944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32571359..32575641hg38UCSC Ensembl
Innerchr21:32571361..32575640hg38UCSC Ensembl
Outerchr21:32571358..32575643hg38UCSC Ensembl
chr21:33943669..33947951hg19UCSC Ensembl
Innerchr21:33943671..33947950hg19UCSC Ensembl
Outerchr21:33943668..33947953hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg384283
hg194283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313502, essv16313514, essv16313509, essv16313507, essv16313517, essv16313521, essv16313515, essv16313520, essv16313512, essv16313516, essv16313510, essv16313501, essv16313505, essv16313519, essv16313506, essv16313508, essv16313504, essv16313518, essv16313503, essv16313522, essv16313513, essv16313511
SamplesNA20874, HG03729, HG03969, HG01524, HG04200, HG03756, HG03672, HG03686, HG03774, HG03926, NA21115, NA20910, HG03931, HG03944, HG03740, HG03645, NA20827, HG04035, NA20792, NA20768, HG03837, HG03777
Known GenesTCP10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646888
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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