A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864044



Internal ID9914436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:92943708..92954242hg38UCSC Ensembl
Outerchr1:93409265..93419799hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3810535
hg1910535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714873, esv2714684
Supporting Variants
SamplesSSM089
Known GenesFAM69A
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)essv6864044
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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