A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733222



Internal ID9967545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167203443..167204232hg38UCSC Ensembl
Outerchr6:167616931..167617720hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814453, essv6705162, essv6963956, essv6727252, essv6767647, essv6757505, essv6734458, essv6975037, essv6687373, essv6923208, essv6740121, essv6711969, essv6765117, essv6890334, essv6878722, essv6849349, essv6708562
SamplesSSM059, SSM027, SSM046, SSM064, SSM097, SSM093, SSM042, SSM041, SSM018, SSM029, SSM035, SSM086, SSM040, SSM077, SSM052, SSM049, SSM063
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)esv2733222
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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