A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727490



Internal ID9961800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:42021794..42022146hg38UCSC Ensembl
Outerchr4:42023811..42024163hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956351, essv6789959, essv6767115, essv6923462, essv6956099, essv6899233, essv6942723, essv6962819, essv6675968, essv6910825, essv6968785, essv6903227, essv6844506, essv6813849, essv6764669, essv6785848, essv6697549, essv6848260, essv6833293, essv6938466, essv6805021, essv6745519, essv6836913, essv6794122, essv6711349, essv6734002, essv6693628, essv6670227, essv6700476, essv6810886, essv6777669, essv6860134, essv6869293, essv6914636, essv6798292, essv6781690, essv6973810, essv6707933, essv6947284, essv6704513, essv6807996, essv6854422, essv6674643, essv6730372, essv6896394, essv6802185, essv6929911, essv6951382, essv6883409, essv6829700, essv6742717, essv6817506, essv6840733, essv6770302, essv6918219, essv6689956, essv6926350, essv6922562
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM064, SSM065, SSM087, SSM038, SSM013, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM086, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM055, SSM070, SSM025, SSM004, SSM099, SSM049, SSM063, SSM012
Known GenesSLC30A9
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)esv2727490
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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