A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646292



Internal ID7033037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62594730..62596706hg38UCSC Ensembl
Innerchr20:62594730..62596706hg38UCSC Ensembl
Outerchr20:62594480..62596887hg38UCSC Ensembl
chr20:61191937..61193913hg19UCSC Ensembl
Innerchr20:61191937..61193913hg19UCSC Ensembl
Outerchr20:61191687..61194094hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381977
hg191977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16221013, essv16221012, essv16221011
SamplesHG03057, HG03457, NA19129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646292
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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