A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16345739



Internal ID6347555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46237437..46238758hg38UCSC Ensembl
Innerchr21:46237437..46238758hg38UCSC Ensembl
Outerchr21:46237437..46238758hg38UCSC Ensembl
chr21:47657351..47658672hg19UCSC Ensembl
Innerchr21:47657351..47658672hg19UCSC Ensembl
Outerchr21:47657351..47658672hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381322
hg191322
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647165
Supporting Variants
SamplesHG01248
Known GenesMCM3AP, MCM3AP-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16345739
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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