A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16324979



Internal ID6326795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42737722..42738919hg38UCSC Ensembl
Innerchr21:42737722..42738919hg38UCSC Ensembl
Outerchr21:42737657..42739110hg38UCSC Ensembl
chr21:44157832..44159029hg19UCSC Ensembl
Innerchr21:44157832..44159029hg19UCSC Ensembl
Outerchr21:44157767..44159220hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647091
Supporting Variants
SamplesHG03066
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16324979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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