A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972560



Internal ID9732166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:157533603..157635387hg38UCSC Ensembl
Outerchr1:157503393..157605177hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38101785
hg19101785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718507
Supporting Variants
SamplesSSM029
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)essv6972560
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer