A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646992



Internal ID7033734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37594397..37606824hg38UCSC Ensembl
Innerchr21:37594403..37606819hg38UCSC Ensembl
Outerchr21:37594392..37606830hg38UCSC Ensembl
chr21:38966699..38979126hg19UCSC Ensembl
Innerchr21:38966705..38979121hg19UCSC Ensembl
Outerchr21:38966694..38979132hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3812428
hg1912428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16319974
SamplesHG03781
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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