A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647121



Internal ID7033863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44173176..44173957hg38UCSC Ensembl
Innerchr21:44173226..44173907hg38UCSC Ensembl
Outerchr21:44173126..44174007hg38UCSC Ensembl
chr21:45593059..45593840hg19UCSC Ensembl
Innerchr21:45593109..45593790hg19UCSC Ensembl
Outerchr21:45593009..45593890hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38782
hg19782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16329060, essv16329062, essv16329061, essv16329063
SamplesNA18979, NA18982, NA18970, NA18975
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647121
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer