A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727415



Internal ID10311051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37036668..37037003hg38UCSC Ensembl
Outerchr4:37038290..37038625hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670218, essv6878204, essv6880994, essv6864912, essv6683480, essv6922558, essv6794116, essv6722748, essv6693626, essv6810880, essv6956089, essv6836907, essv6850642, essv6805018, essv6896389, essv6848250, essv6860129, essv6906897, essv6962808, essv6854413, essv6872311
SamplesSSM083, SSM071, SSM027, SSM045, SSM011, SSM087, SSM093, SSM074, SSM088, SSM018, SSM026, SSM089, SSM094, SSM031, SSM014, SSM086, SSM037, SSM076, SSM091, SSM034, SSM099
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)esv2727415
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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