A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667632



Internal ID9737992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152068870..152071103hg38UCSC Ensembl
Outerchr6:152390005..152392238hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382234
hg192234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732904
Supporting Variants
SamplesSSM030
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)essv6667632
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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