A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613729



Internal ID7000625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75724222..75735439hg38UCSC Ensembl
chr7:75353540..75364757hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3811218
hg1911218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848056, essv12848049, essv12848093, essv12848073, essv12848085, essv12848067, essv12848057, essv12848046, essv12848048, essv12848087, essv12848066, essv12848079, essv12848078, essv12848090, essv12848053, essv12848092, essv12848097, essv12848060, essv12848058, essv12848095, essv12848052, essv12848074, essv12848070, essv12848084, essv12848054, essv12848068, essv12848064, essv12848072, essv12848094, essv12848089, essv12848086, essv12848076, essv12848098, essv12848061, essv12848059, essv12848047, essv12848083, essv12848081, essv12848091, essv12848063, essv12848055, essv12848080, essv12848045, essv12848051, essv12848088, essv12848069, essv12848065, essv12848071, essv12848077, essv12848050, essv12848075, essv12848062, essv12848096, essv12848082
SamplesNA11830, NA11829, HG03960, HG03237, HG04211, NA20512, HG01686, HG03772, HG03950, HG00337, HG04022, HG03943, NA11992, HG01063, HG00130, NA12275, NA12005, HG04047, HG01771, HG02780, HG01164, NA20858, HG03007, HG00332, NA12872, HG04107, NA20314, HG00263, NA20519, HG03756, NA20832, NA20767, NA12249, HG01625, HG01530, HG00258, HG00382, HG03695, NA20870, NA12873, HG04099, NA06986, HG00339, HG01395, NA06994, HG04015, HG03022, HG00252, NA07000, HG03867, NA20908, NA20754, NA12776, HG01608
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613729
Frequency
Sample Size2504
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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