A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16247847



Internal ID6249663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10419713..10422484hg38UCSC Ensembl
Innerchr21:10419839..10422434hg38UCSC Ensembl
Outerchr21:10419656..10422541hg38UCSC Ensembl
chr21:11089973..11092744hg19UCSC Ensembl
Innerchr21:11090023..11092618hg19UCSC Ensembl
Outerchr21:11089916..11092801hg19UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg382772
hg192772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646371
Supporting Variants
SamplesNA20767
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16247847
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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