A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733223



Internal ID9967546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167203873..167204049hg38UCSC Ensembl
Outerchr6:167617361..167617537hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705162, essv6963956, essv6727252, essv6975037, essv6687373, essv6711969, essv6890334, essv6878722, essv6849349, essv6708562
SamplesSSM027, SSM046, SSM097, SSM093, SSM042, SSM041, SSM029, SSM035, SSM086, SSM040
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)esv2733223
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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