A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947911



Internal ID10056186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151512487..151512877hg38UCSC Ensembl
Outerchr6:151833622..151834012hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732903
Supporting Variants
SamplesSSM024
Known GenesCCDC170
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)essv6947911
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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