A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719829



Internal ID9954123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:177962899..177963522hg38UCSC Ensembl
Outerchr1:177932034..177932657hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817787, essv6769654, essv6666376, essv6710711, essv6836306, essv6692908, essv6703960
SamplesSSM010, SSM065, SSM042, SSM040, SSM001, SSM083, SSM037
Known GenesSEC16B
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)esv2719829
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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