A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782364



Internal ID10186936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168316736..168317950hg38UCSC Ensembl
Outerchr6:168717416..168718630hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733348, esv2733346, esv2733342, esv2733344
Supporting Variants
SamplesSSM068
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)essv6782364
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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