A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732254



Internal ID9966573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:70010312..70016519hg38UCSC Ensembl
Outerchr6:70720204..70726411hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386208
hg196208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754582, essv6740013, essv6708482, essv6760071, essv6939060, essv6888266, essv6934772, essv6774630, essv6896802, essv6961618, essv6765052, essv6734387, essv6680440, essv6715574, essv6926853, essv6855289, essv6757436, essv6915111, essv6743212, essv6751634
SamplesSSM022, SSM053, SSM033, SSM061, SSM099, SSM043, SSM016, SSM057, SSM041, SSM012, SSM066, SSM021, SSM063, SSM087, SSM019, SSM052, SSM004, SSM049, SSM058, SSM059
Known GenesCOL19A1
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)esv2732254
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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