A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644946



Internal ID6685009
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv771e214
Supporting Variantsessv16107566, essv16107565
SamplesHG03730, NA19454
Known GenesNRSN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644946
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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