A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937790



Internal ID9700063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157533583..157635377hg38UCSC Ensembl
Outerchr1:157503373..157605167hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38101795
hg19101795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718507
Supporting Variants
SamplesSSM022
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)essv6937790
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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