A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646486



Internal ID7033230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17795046..17796753hg38UCSC Ensembl
Innerchr21:17795071..17796728hg38UCSC Ensembl
Outerchr21:17795021..17796778hg38UCSC Ensembl
chr21:19167363..19169070hg19UCSC Ensembl
Innerchr21:19167388..19169045hg19UCSC Ensembl
Outerchr21:19167338..19169095hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381708
hg191708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16273893
SamplesNA20511
Known GenesC21orf91
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646486
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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