A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727230



Internal ID10310866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16441576..16443546hg38UCSC Ensembl
Outerchr4:16443199..16445169hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679895, essv6794100, essv6689925, essv6817474, essv6724399, essv6718850, essv6938439, essv6790743, essv6926331, essv6722728, essv6973760, essv6711320, essv6875271, essv6942691, essv6956140, essv6860100, essv6759604, essv6785818, essv6854386, essv6714988, essv6918203, essv6923185, essv6781664, essv6754083, essv6751173, essv6798269, essv6878188, essv6914612, essv6770284, essv6847375, essv6956049, essv6929888, essv6883796, essv6755388, essv6844491, essv6896367, essv6850398, essv6869274, essv6951356, essv6807977, essv6821891, essv6700288, essv6864887, essv6903210
SamplesSSM036, SSM008, SSM071, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM013, SSM009, SSM093, SSM042, SSM088, SSM002, SSM057, SSM023, SSM058, SSM092, SSM090, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM003, SSM044, SSM033, SSM006, SSM085, SSM068, SSM072, SSM020, SSM007, SSM078, SSM016, SSM022, SSM095, SSM025, SSM004, SSM099, SSM043
Known Genes
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)esv2727230
Frequency
Sample Size96
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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