A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625258



Internal ID7012093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5871517..5939783hg38UCSC Ensembl
chr11:5892747..5961013hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3868267
hg1968267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14008975, essv14009001, essv14008992, essv14008951, essv14008948, essv14008950, essv14008981, essv14008987, essv14009004, essv14008993, essv14008961, essv14008980, essv14008986, essv14008979, essv14008960, essv14008952, essv14008997, essv14008962, essv14008996, essv14008970, essv14008949, essv14008990, essv14009005, essv14008967, essv14008954, essv14009000, essv14008955, essv14008969, essv14008998, essv14008977, essv14009003, essv14008972, essv14008984, essv14008965, essv14009002, essv14008966, essv14008988, essv14008989, essv14008985, essv14008982, essv14008994, essv14008995, essv14008953, essv14008957, essv14008976, essv14008991, essv14008971, essv14008968, essv14008956, essv14008964, essv14008974, essv14008999, essv14008958, essv14008963, essv14008973, essv14008959, essv14008978, essv14008983
SamplesHG01850, HG02072, NA18565, HG02375, HG02026, NA18980, HG04194, HG00766, NA18528, HG01802, HG02382, HG00717, HG01873, HG02185, HG02151, NA20911, HG00458, HG02374, HG00851, NA18571, NA18611, HG00683, HG02138, HG00406, HG02073, HG02409, HG00560, NA18605, NA19070, NA18525, NA19006, HG00653, HG02084, HG00598, HG01852, HG00844, HG00479, HG02048, NA18532, HG00463, HG00864, HG01596, HG00407, HG01812, HG01597, HG01800, NA19090, HG00473, NA18610, HG00672, HG02116, HG01817, HG00472, HG02028, HG03611, HG02020, HG00759, NA19063
Known GenesOR52E4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625258
Frequency
Sample Size2504
Observed Gain58
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer