A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646970



Internal ID7033712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36431084..36432249hg38UCSC Ensembl
Innerchr21:36431084..36432249hg38UCSC Ensembl
Outerchr21:36431007..36432272hg38UCSC Ensembl
chr21:37803382..37804547hg19UCSC Ensembl
Innerchr21:37803382..37804547hg19UCSC Ensembl
Outerchr21:37803305..37804570hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16319560, essv16319564, essv16319569, essv16319565, essv16319563, essv16319561, essv16319567, essv16319568, essv16319570, essv16319559, essv16319566, essv16319571, essv16319562
SamplesHG01986, HG03517, NA19119, HG02489, HG03520, HG03583, HG03114, NA19247, NA19774, NA19113, HG01107, HG02455, HG02941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646970
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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