A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727055



Internal ID10310691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7560672..7561632hg38UCSC Ensembl
Outerchr4:7562399..7563359hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798249, essv6883790, essv6956074, essv6722715, essv6880971, essv6707900, essv6973738, essv6878181, essv6697517, essv6777637, essv6889640
SamplesSSM045, SSM038, SSM097, SSM093, SSM041, SSM029, SSM094, SSM067, SSM072, SSM095, SSM004
Known GenesSORCS2
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)esv2727055
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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