A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722925



Internal ID10306561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63455755..63456168hg38UCSC Ensembl
Outerchr20:62087108..62087521hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733100, essv6792862, essv6776610, essv6692391, essv6750334, essv6756254, essv6832208, essv6858652, essv6971848, essv6954280
SamplesSSM036, SSM087, SSM058, SSM028, SSM047, SSM066, SSM081, SSM070, SSM025, SSM056
Known GenesKCNQ2
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)esv2722925
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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