A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721729



Internal ID10305365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203372976..203373514hg38UCSC Ensembl
Outerchr1:203342104..203342642hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785976, essv6961793, essv6921893, essv6718300, essv6769677, essv6699768, essv6972630, essv6946637
SamplesSSM027, SSM024, SSM065, SSM039, SSM009, SSM018, SSM029, SSM044
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)esv2721729
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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