A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720424



Internal ID10304060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97768674..97769342hg38UCSC Ensembl
Outerchr2:98385137..98385805hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv608e201
Supporting Variantsessv6925993, essv6962099, essv6745193, essv6917790, essv6879809, essv6914276, essv6868985, essv6972978, essv6739121, essv6721443, essv6933679, essv6886238, essv6968335, essv6953051, essv6874980, essv6769874, essv6950914, essv6783042, essv6929458, essv6816982, essv6819287, essv6938042
SamplesSSM027, SSM065, SSM028, SSM092, SSM090, SSM021, SSM029, SSM096, SSM017, SSM019, SSM001, SSM020, SSM007, SSM078, SSM016, SSM022, SSM010, SSM055, SSM025, SSM004, SSM052, SSM012
Known GenesTMEM131
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)esv2720424
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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