A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902616



Internal ID9667752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119470216..119470905hg38UCSC Ensembl
Outerchr1:120012839..120013528hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716773, esv2716762
Supporting Variants
SamplesSSM013
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)essv6902616
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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