A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721125



Internal ID9955421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170827945..170828494hg38UCSC Ensembl
Outerchr2:171684455..171685004hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693240, essv6906542, essv6953584, essv6946913, essv6801929, essv6825436, essv6962227, essv6700073
SamplesSSM027, SSM024, SSM039, SSM073, SSM014, SSM080, SSM037, SSM004
Known GenesGAD1
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)esv2721125
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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