A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720654



Internal ID10304290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121134218..121135094hg38UCSC Ensembl
Outerchr2:121891794..121892670hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853791, essv6859617, essv6910435, essv6874993, essv6819398
SamplesSSM087, SSM088, SSM092, SSM015, SSM010
Known Genes
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)esv2720654
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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