A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725711



Internal ID10309347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:102564881..102565269hg38UCSC Ensembl
Outerchr3:102283725..102284113hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899084, essv6669938, essv6859919, essv6880863, essv6675794, essv6700284, essv6793924, essv6903077, essv6836737, essv6798089, essv6883691, essv6821749, essv6973500, essv6813682, essv6704356, essv6785649, essv6817302, essv6707786, essv6833126, essv6864713, essv6906742, essv6942502, essv6825640, essv6892849, essv6854151, essv6869155, essv6847994, essv6807852, essv6886411
SamplesSSM100, SSM083, SSM071, SSM075, SSM079, SSM087, SSM039, SSM013, SSM088, SSM041, SSM023, SSM090, SSM069, SSM029, SSM096, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM040, SSM072, SSM082, SSM078, SSM080, SSM077, SSM095, 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)esv2725711
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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