A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914986



Internal ID10026062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1745180..1745621hg38UCSC Ensembl
Outerchr6:1745414..1745855hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731441, esv2731442
Supporting Variants
SamplesSSM016
Known GenesGMDS
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)essv6914986
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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