A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731827



Internal ID10315463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32345939..32346311hg38UCSC Ensembl
Outerchr6:32313716..32314088hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956937, essv6974726, essv6701015, essv6748705, essv6676501, essv6811281, essv6798791, essv6694121, essv6907494, essv6751558, essv6899656, essv6745914, essv6704957, essv6671068, essv6782147, essv6927862, essv6890185, essv6727083, essv6825721, essv6855076, essv6794854, essv6884182, essv6687216, essv6865552, essv6860789, essv6855170, essv6826346, essv6818175, essv6963660
SamplesSSM100, SSM027, SSM046, SSM011, SSM087, SSM097, SSM039, SSM009, SSM088, SSM057, SSM029, SSM026, SSM089, SSM035, SSM032, SSM003, SSM031, SSM014, SSM068, SSM040, SSM072, SSM078, SSM080, SSM037, SSM076, SSM010, SSM055, SSM095, SSM056
Known GenesC6orf10
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)esv2731827
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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