A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722386



Internal ID10306022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37361513..37362144hg38UCSC Ensembl
Outerchr20:35989916..35990547hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38632
hg19632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666247, essv6874330, essv6932852, essv6840954, essv6937164, essv6824541, essv6858582, essv6710260, essv6873631, essv6863461, essv6682435, essv6725408
SamplesSSM045, SSM011, SSM079, SSM087, SSM088, SSM041, SSM021, SSM029, SSM033, SSM020, SSM010, SSM091
Known GenesSRC
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)esv2722386
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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