A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733336



Internal ID9967659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168295869..168296347hg38UCSC Ensembl
Outerchr6:168696549..168697027hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6799025, essv6878725, essv6711981, essv6899815, essv6698030, essv6930604, essv6865769, essv6963974, essv6845090, essv6957264, essv6770968, essv6881535, essv6911488, essv6808549, essv6794810, essv6918992, essv6869894, essv6947958
SamplesSSM100, SSM071, SSM027, SSM024, SSM075, SSM065, SSM038, SSM093, SSM042, SSM090, SSM026, SSM089, SSM017, SSM094, SSM085, SSM072, SSM020, SSM015
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)esv2733336
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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