A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732754



Internal ID9967075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278682..136279756hg38UCSC Ensembl
Outerchr6:136599820..136600894hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381075
hg191075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1016e201
Supporting Variantsessv6734435, essv6884315, essv6790604, essv6903808, essv6704476, essv6887092, essv6802649, essv6872849, essv6881506, essv6869849, essv6719537, essv6841350, essv6751677, essv6837527, essv6929551, essv6923162, essv6676674, essv6930543, essv6814417, essv6723319, essv6782307, essv6947901, essv6794758, essv6798964, essv6727211, essv6855374, essv6962128, essv6778295, essv6878697, essv6705126, essv6701185, essv6865711, essv6899785, essv6830269, essv6849285, essv6671256, essv6893627, essv6918927
SamplesSSM100, SSM083, SSM071, SSM024, SSM045, SSM046, SSM087, SSM039, SSM013, SSM073, SSM093, SSM057, SSM084, SSM090, SSM018, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM006, SSM068, SSM081, SSM040, SSM072, SSM020, SSM077, SSM091, SSM070, SSM095, SSM004, SSM098, SSM049
Known GenesBCLAF1
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)esv2732754
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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