A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727114



Internal ID9961422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8413366..8413743hg38UCSC Ensembl
Outerchr4:8415093..8415470hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785811, essv6726566, essv6896361, essv6951349, essv6914606, essv6689919, essv6759596, essv6730344, essv6804994, essv6926324, essv6718841, essv6938427, essv6840705, essv6798257, essv6889645, essv6733973, essv6947253, essv6754072, essv6724321, essv6875262, essv6860092, essv6923096, essv6700431
SamplesSSM022, SSM007, SSM092, SSM036, SSM084, SSM061, SSM099, SSM088, SSM025, SSM072, SSM016, SSM039, SSM024, SSM097, SSM003, SSM047, SSM069, SSM046, SSM019, SSM044, SSM074, SSM049, SSM058
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)esv2727114
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer