A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716629



Internal ID9950917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117050726..117052377hg38UCSC Ensembl
Outerchr1:117593348..117594999hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381652
hg191652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910140, essv6816701
SamplesSSM015, SSM078
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)esv2716629
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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