A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721150



Internal ID10304786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173737515..173738724hg38UCSC Ensembl
Outerchr2:174602243..174603452hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872036, essv6864476, essv6769945, essv6817082, essv6764444, essv6669659
SamplesSSM065, SSM089, SSM031, SSM078, SSM091, SSM063
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)esv2721150
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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