A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6856120



Internal ID9664112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152068852..152071090hg38UCSC Ensembl
Outerchr6:152389987..152392225hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382239
hg192239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732904
Supporting Variants
SamplesSSM011
Known GenesESR1
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)essv6856120
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