A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722355



Internal ID10305991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34528002..34528340hg38UCSC Ensembl
Outerchr20:33115807..33116145hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895456, essv6863455, essv6892000, essv6674612, essv6950046, essv6967265, essv6925219, essv6873598, essv6928698, essv6706929, essv6666240, essv6835745, essv6685815, essv6721585, essv6868249, essv6816213, essv6820725, essv6792819, essv6960809, essv6828603, essv6776561, essv6703422, essv6885673, essv6909705
SamplesSSM027, SSM024, SSM011, SSM097, SSM039, SSM088, SSM018, SSM029, SSM026, SSM089, SSM019, SSM031, SSM044, SSM014, SSM066, SSM040, SSM082, SSM078, SSM080, SSM077, SSM070, SSM095, SSM034, SSM098
Known GenesDYNLRB1
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)esv2722355
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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