A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969257



Internal ID10075835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3145204..3146282hg38UCSC Ensembl
Outerchr6:3145438..3146516hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731487
Supporting Variants
SamplesSSM028
Known GenesBPHL
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)essv6969257
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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