A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759200



Internal ID9822414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226975915..226976583hg38UCSC Ensembl
Outerchr1:227163616..227164284hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724073
Supporting Variants
SamplesSSM061
Known GenesADCK3
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)essv6759200
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