A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733335



Internal ID9967658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168295536..168296633hg38UCSC Ensembl
Outerchr6:168696216..168697313hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381098
hg191098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799025, essv6975053, essv6796920, essv6889266, essv6751724, essv6878725, essv6740135, essv6711981, essv6899815, essv6698030, essv6743293, essv6818417, essv6762253, essv6875860, essv6748871, essv6930604, essv6865769, essv6963974, essv6737089, essv6729998, essv6965261, essv6969530, essv6845090, essv6957264, essv6770968, essv6881535, essv6765126, essv6934890, essv6746059, essv6911488, essv6808549, essv6794810, essv6715685, essv6671359, essv6918992, essv6734462, essv6869894, essv6947958, essv6704754, essv6962618, essv6760167, essv6930062
SamplesSSM100, SSM008, SSM071, SSM027, SSM024, SSM075, SSM065, SSM038, SSM009, SSM093, SSM050, SSM042, SSM057, SSM028, SSM092, SSM090, SSM021, SSM061, SSM029, SSM026, SSM089, SSM017, SSM094, SSM003, SSM031, SSM001, SSM006, SSM085, SSM072, SSM020, SSM007, SSM015, SSM078, SSM053, SSM055, SSM004, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesDACT2
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)esv2733335
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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