A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645652



Internal ID6685714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31500710..31576564hg38UCSC Ensembl
Innerchr20:31500860..31576414hg38UCSC Ensembl
Outerchr20:31500560..31576714hg38UCSC Ensembl
chr20:30088513..30164367hg19UCSC Ensembl
Innerchr20:30088663..30164217hg19UCSC Ensembl
Outerchr20:30088363..30164517hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3875855
hg1975855
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16173466
SamplesHG00759
Known GenesHM13, HM13-AS1, PSIMCT-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645652
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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