A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747167



Internal ID9981451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25146837..25147226hg38UCSC Ensembl
Outerchr13:25720975..25721364hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900720, essv6685194, essv6768605, essv6891389, essv6885168, essv6815570, essv6945087, essv6912737, essv6842566, essv6838746, essv6806472, essv6787881, essv6713113, essv6862541, essv6772194, essv6812307, essv6819851, essv6879576, essv6866898, essv6949208, essv6905021, essv6779581, essv6882419, essv6800352, essv6936284, essv6867318, essv6823760, essv6791976, essv6857413, essv6851405, essv6809479, essv6673353, essv6677950, essv6783683, essv6720809, essv6977459, essv6834996, essv6900488, essv6873774, essv6827855, essv6966005, essv6897739, essv6908990, essv6888087, essv6959480, essv6870810, essv6728456, essv6702588
SamplesSSM100, SSM083, SSM027, SSM024, SSM075, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM093, SSM074, SSM042, SSM088, SSM023, SSM084, SSM090, SSM021, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM072, SSM082, SSM015, SSM078, SSM080, SSM077, SSM076, SSM091, SSM070, SSM095, SSM034, SSM099, SSM012
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)esv2747167
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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