A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646440



Internal ID7033184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15054905..15056891hg38UCSC Ensembl
Innerchr21:15054955..15056841hg38UCSC Ensembl
Outerchr21:15054855..15056941hg38UCSC Ensembl
chr21:16427226..16429212hg19UCSC Ensembl
Innerchr21:16427276..16429162hg19UCSC Ensembl
Outerchr21:16427176..16429262hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381987
hg191987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16266686
SamplesNA20538
Known GenesNRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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