A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727113



Internal ID9961421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8393232..8393490hg38UCSC Ensembl
Outerchr4:8394959..8395217hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730343, essv6804993, essv6825777, essv6833263, essv6875261, essv6947252, essv6700430, essv6926323, essv6922533, essv6726564, essv6836888, essv6914605, essv6869268, essv6883154, essv6718840, essv6742681, essv6790676, essv6821955, essv6798256, essv6951348, essv6854371, essv6697520, essv6923085, essv6942688, essv6724310, essv6860091, essv6686755, essv6968754, essv6755277, essv6689918, essv6896360, essv6840704, essv6794085
SamplesSSM010, SSM007, SSM092, SSM053, SSM082, SSM036, SSM084, SSM099, SSM088, SSM090, SSM035, SSM025, SSM072, SSM071, SSM016, SSM039, SSM024, SSM083, SSM012, SSM009, SSM028, SSM003, SSM047, SSM087, SSM038, SSM046, SSM019, SSM023, SSM044, SSM074, SSM008, SSM018, SSM080
Known GenesACOX3
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)esv2727113
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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