A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722844



Internal ID10306480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62971519..62972377hg38UCSC Ensembl
Outerchr20:61602871..61603729hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937200, essv6858640, essv6706957, essv6954269, essv6756249, essv6710287, essv6828634, essv6766295, essv6804179, essv6835777, essv6868297, essv6863501, essv6738538, essv6780414, essv6914240, essv6967331, essv6721625, essv6812882, essv6773049, essv6841120, essv6788751, essv6932883, essv6892023, essv6776604, essv6950086, essv6717755, essv6921224, essv6846641, essv6832201, essv6744651, essv6839556, essv6807073, essv6874358, essv6674663, essv6898304, essv6813565, essv6784572, essv6824566, essv6946773, essv6895482, essv6885703, essv6682470, essv6792857, essv6971834, essv6797038, essv6941360
SamplesSSM083, SSM071, SSM027, SSM024, SSM079, SSM065, SSM087, SSM097, SSM009, SSM073, SSM050, SSM074, SSM088, SSM002, SSM041, SSM058, SSM028, SSM021, SSM069, SSM089, SSM017, SSM003, SSM031, SSM067, SSM044, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM053, SSM080, SSM076, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM099, SSM043, SSM098, SSM063
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)esv2722844
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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