A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621555



Internal ID7008423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114316410..114335883hg38UCSC Ensembl
chr9:117078690..117098163hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3819474
hg1919474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503e214
Supporting Variantsessv13606954, essv13606985, essv13606983, essv13607027, essv13606949, essv13606995, essv13606996, essv13606972, essv13607005, essv13606990, essv13607018, essv13606975, essv13607002, essv13606980, essv13606970, essv13607031, essv13607000, essv13606951, essv13607022, essv13606962, essv13607025, essv13607016, essv13607010, essv13607009, essv13606953, essv13606984, essv13606956, essv13606986, essv13607030, essv13606967, essv13606959, essv13606987, essv13606993, essv13606991, essv13607023, essv13607017, essv13607014, essv13607019, essv13606968, essv13606982, essv13606981, essv13606964, essv13606960, essv13607007, essv13606969, essv13607011, essv13607015, essv13607029, essv13606965, essv13606992, essv13606961, essv13606989, essv13606958, essv13606957, essv13606971, essv13606955, essv13606948, essv13607001, essv13606974, essv13607013, essv13607003, essv13607026, essv13606998, essv13606977, essv13606952, essv13606950, essv13606979, essv13607021, essv13606997, essv13606978, essv13606988, essv13607024, essv13606976, essv13606994, essv13607004, essv13607020, essv13606999, essv13606963, essv13607028, essv13607012, essv13607008, essv13607006, essv13606973, essv13606947, essv13606966
SamplesHG04198, NA18998, HG01060, HG01413, NA20761, HG03559, HG01965, HG01610, HG01537, HG02661, HG03015, NA20805, HG02271, HG00115, NA20517, NA07357, NA18627, NA19076, HG01506, HG01064, HG01676, HG00689, HG03765, NA20769, NA11918, NA20540, NA18571, HG03629, HG00185, NA19079, NA20910, HG02505, HG00281, HG02736, HG01757, HG03369, NA20318, NA20818, HG00133, HG02977, HG01669, HG01790, HG02678, HG01271, HG01345, HG04180, HG01607, HG00651, HG00250, NA19449, HG00350, HG01182, NA19095, HG00126, HG01596, NA18945, NA19017, NA19401, NA20872, HG03028, HG02089, NA18535, NA19108, NA20276, NA19019, HG01131, HG01685, HG00631, NA21095, HG01933, NA18610, NA21125, HG01770, NA20582, HG00656, HG00310, NA11843, HG01781, NA19900, HG02947, HG02805, NA07000, HG03931, HG00554, NA19429
Known GenesAKNA, ORM1, ORM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621555
Frequency
Sample Size2504
Observed Gain85
Observed Loss0
Observed Complex0
Frequencyn/a


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