A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722957



Internal ID9957257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63677759..63677965hg38UCSC Ensembl
Outerchr20:62309112..62309318hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882998, essv6852714, essv6960891, essv6895489, essv6888715, essv6932892, essv6812889, essv6820780, essv6909738, essv6835783, essv6858659, essv6868306, essv6828640, essv6685852
SamplesSSM087, SSM096, SSM026, SSM089, SSM094, SSM014, SSM086, SSM082, SSM020, SSM078, SSM080, SSM076, SSM034, SSM098
Known GenesRTEL1, RTEL1-TNFRSF6B
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)esv2722957
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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