A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969039



Internal ID9637359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157533691..157635383hg38UCSC Ensembl
Outerchr1:157503481..157605173hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38101693
hg19101693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718507
Supporting Variants
SamplesSSM001
Known GenesFCRL4, FCRL5
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)essv6969039
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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