A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646998



Internal ID6687054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38155121..38158390hg38UCSC Ensembl
Innerchr21:38155145..38158366hg38UCSC Ensembl
Outerchr21:38155097..38158414hg38UCSC Ensembl
chr21:39527215..39530484hg19UCSC Ensembl
Innerchr21:39527239..39530460hg19UCSC Ensembl
Outerchr21:39527191..39530508hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg383270
hg193270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320679
SamplesNA20854
Known GenesDSCR8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646998
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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