A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900376



Internal ID9986129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316757..168317976hg38UCSC Ensembl
Outerchr6:168717437..168718656hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733348, esv2733346, esv2733342, esv2733344
Supporting Variants
SamplesSSM002
Known GenesDACT2
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)essv6900376
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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