A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727408



Internal ID10311044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:36468268..36468628hg38UCSC Ensembl
Outerchr4:36469890..36470250hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38361
hg19361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850631, essv6889674, essv6785840, essv6821915, essv6794115, essv6675963, essv6886555, essv6854412, essv6880993, essv6892995, essv6848249, essv6840726, essv6864911, essv6789954, essv6883813, essv6878203, essv6817496, essv6802178, essv6973794, essv6781684, essv6807993, essv6798286, essv6899229, essv6686774, essv6906895, essv6860128, essv6825803, essv6956087, essv6689949, essv6670216, essv6683479, essv6869286, essv6805017, essv6836906, essv6929904
SamplesSSM100, SSM036, SSM083, SSM071, SSM075, SSM011, SSM079, SSM087, SSM097, SSM073, SSM093, SSM074, SSM088, SSM084, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM068, SSM072, SSM020, SSM078, SSM080, SSM070, SSM095, SSM034, SSM098
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)esv2727408
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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