A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107565



Internal ID6109381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:342870..365918hg38UCSC Ensembl
Innerchr20:343020..365768hg38UCSC Ensembl
Outerchr20:342720..366068hg38UCSC Ensembl
chr20:323514..346562hg19UCSC Ensembl
Innerchr20:323664..346412hg19UCSC Ensembl
Outerchr20:323364..346712hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3823049
hg1923049
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644946
Supporting Variants
SamplesHG03730
Known GenesNRSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107565
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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