A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943586



Internal ID10052152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:164962816..164963164hg38UCSC Ensembl
Outerchr6:165376305..165376653hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733145
Supporting Variants
SamplesSSM023
Known Genes
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)essv6943586
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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