A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721976



Internal ID9956274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241108594..241109360hg38UCSC Ensembl
Outerchr2:242048009..242048775hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38767
hg19767
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669781, essv6854005, essv6881142, essv6864585, essv6759421, essv6933832, essv6859794, essv6973302, essv6756873, essv6686556, essv6962367
SamplesSSM059, SSM027, SSM087, SSM088, SSM021, SSM061, SSM029, SSM089, SSM035, SSM031, SSM012
Known GenesPASK
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)esv2721976
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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