A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733055



Internal ID10316691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160457077..160668796hg38UCSC Ensembl
Outerchr6:160878109..161089828hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38211720
hg19211720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962418, essv6782335, essv6934861, essv6833891, essv6918961, essv6743279, essv6923192, essv6939149, essv6865742, essv6826540, essv6926926, essv6899265, essv6889032, essv6796710, essv6896862, essv6889021, essv6926925, essv6830300, essv6962407, essv6887116, essv6827031, essv6969499, essv6822561, essv6903832, essv6833896, essv6796698
SamplesSSM079, SSM013, SSM009, SSM002, SSM028, SSM021, SSM018, SSM096, SSM089, SSM017, SSM019, SSM068, SSM081, SSM082, SSM053, SSM080, SSM022, SSM010, SSM004, SSM099, SSM012
Known GenesLPA, LPAL2
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)esv2733055
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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