A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6898758



Internal ID9946446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225815113..225815460hg38UCSC Ensembl
Outerchr1:226002815..226003162hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723929
Supporting Variants
SamplesSSM100
Known GenesEPHX1
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)essv6898758
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