A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731743



Internal ID10315379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:28222401..28222758hg38UCSC Ensembl
Outerchr6:28190179..28190536hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38358
hg19358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6782115, essv6907467, essv6794343, essv6794588, essv6869619, essv6922991, essv6855135, essv6911254, essv6704921, essv6893439, essv6715433, essv6690356, essv6947728, essv6865514, essv6774548, essv6778111, essv6903661, essv6899620, essv6927518, essv6822391, essv6878558, essv6886959, essv6890146, essv6844835, essv6802516, essv6677677, essv6708348, essv6730804, essv6841182, essv6786317, essv6826315, essv6956903, essv6854887, essv6872659, essv6818139, essv6694092, essv6719338, essv6963621, essv6798764, essv6860738, essv6700990, essv6808329, essv6680325, essv6825388
SamplesSSM100, SSM036, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM088, SSM041, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM026, SSM089, SSM003, SSM067, SSM044, SSM014, SSM033, SSM066, SSM085, SSM068, SSM040, SSM072, SSM015, SSM078, SSM005, SSM080, SSM037, SSM010, SSM091, SSM043, SSM098
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)esv2731743
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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