A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869805



Internal ID10266308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:87576026..87576488hg38UCSC Ensembl
Outerchr6:88285744..88286206hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732391
Supporting Variants
SamplesSSM090
Known GenesRARS2
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)essv6869805
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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