A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720286



Internal ID10303922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:84829540..84829824hg38UCSC Ensembl
Outerchr2:85056664..85056948hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693150, essv6821265, essv6832888, essv6938024, essv6880658
SamplesSSM002, SSM094, SSM082, SSM037, SSM022
Known GenesTRABD2A
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)esv2720286
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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