A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722960



Internal ID9957260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63722996..63723932hg38UCSC Ensembl
Outerchr20:62354348..62355284hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913598, essv6925266, essv6902173, essv6689013, essv6921235, essv6828641, essv6843434, essv6682481, essv6892030, essv6852715, essv6713860, essv6909739, essv6668673, essv6888716, essv6666121
SamplesSSM086, SSM033, SSM084, SSM042, SSM035, SSM097, SSM012, SSM017, SSM030, SSM096, SSM004, SSM015, SSM014, SSM018, SSM080
Known GenesZGPAT
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)esv2722960
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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