A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617427



Internal ID7004312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63241827..63243473hg38UCSC Ensembl
Innerchr8:63241836..63243464hg38UCSC Ensembl
Outerchr8:63241818..63243482hg38UCSC Ensembl
chr8:64154385..64156031hg19UCSC Ensembl
Innerchr8:64154394..64156022hg19UCSC Ensembl
Outerchr8:64154376..64156040hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381647
hg191647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13213122, essv13213109, essv13213132, essv13213095, essv13213091, essv13213144, essv13213143, essv13213120, essv13213129, essv13213118, essv13213148, essv13213111, essv13213114, essv13213125, essv13213105, essv13213116, essv13213104, essv13213098, essv13213126, essv13213094, essv13213096, essv13213115, essv13213140, essv13213121, essv13213117, essv13213101, essv13213106, essv13213128, essv13213139, essv13213133, essv13213097, essv13213145, essv13213131, essv13213113, essv13213135, essv13213119, essv13213108, essv13213130, essv13213141, essv13213146, essv13213138, essv13213147, essv13213099, essv13213092, essv13213123, essv13213103, essv13213102, essv13213136, essv13213093, essv13213134, essv13213137, essv13213107, essv13213100, essv13213112, essv13213142, essv13213127, essv13213090, essv13213110, essv13213124
SamplesHG01795, HG03960, HG02375, HG02029, NA18979, HG02382, HG02394, HG02023, HG01809, HG03782, NA18597, HG02069, HG02087, HG00674, NA18558, NA18960, HG02130, HG03830, HG00632, HG00406, HG02180, NA19056, HG04146, HG02142, HG02025, HG01864, HG00653, HG02397, HG01852, HG02364, HG03742, NA18626, HG02086, HG00525, HG04152, NA18593, HG02127, HG00445, HG00407, NA19003, HG01812, HG01597, NA18564, NA18950, HG01800, HG01866, NA18643, HG01798, HG02019, HG02133, HG02379, HG02396, HG01600, HG02182, NA18984, HG02353, HG01807, HG02020, NA18577
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617427
Frequency
Sample Size2504
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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