A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721007



Internal ID10304643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:156220567..156220837hg38UCSC Ensembl
Outerchr2:157077079..157077349hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853852, essv6810623, essv6962205, essv6946900, essv6886279, essv6847666, essv6718550, essv6785430, essv6722389, essv6707625, essv6832963
SamplesSSM027, SSM024, SSM045, SSM087, SSM041, SSM069, SSM096, SSM044, SSM086, SSM082, SSM076
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)esv2721007
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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