A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863948



Internal ID10261036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10576631..10583967hg38UCSC Ensembl
Outerchr1:10636688..10644024hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg387337
hg197337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743685
Supporting Variants
SamplesSSM089
Known GenesPEX14
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)essv6863948
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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