A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722034



Internal ID10305670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:709146..710098hg38UCSC Ensembl
Outerchr20:689790..690742hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665466, essv6971756, essv6796941, essv6750269, essv6666171, essv6839479, essv6801160, essv6812965, essv6840631, essv6744898, essv6810024, essv6747433, essv6812828, essv6776523, essv6921137, essv6880100, essv6725357, essv6744604, essv6674557, essv6738485, essv6807011, essv6772960, essv6713780, essv6816180, essv6868199
SamplesSSM083, SSM071, SSM075, SSM045, SSM065, SSM009, SSM093, SSM050, SSM074, SSM042, SSM028, SSM029, SSM089, SSM017, SSM031, SSM066, SSM072, SSM007, SSM053, SSM077, SSM076, SSM010, SSM055, SSM004, SSM056
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2722034
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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