A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676880



Internal ID9942985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191947036..191949292hg38UCSC Ensembl
Outerchr1:191946465..191949762hg38UCSC Ensembl
Innerchr1:191916166..191918422hg19UCSC Ensembl
Outerchr1:191915595..191918892hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg383298
hg193298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85e199
Supporting Variantsessv5570858, essv5550265, essv5401828, essv6283245, essv6535817, essv5963741, essv5436534, essv5614479, essv6537044, essv5971194, essv5791091, essv5958357, essv5437555, essv5539600, essv5572055, essv6124808, essv6311248, essv6466856, essv5414876, essv6586777, essv5759565, essv6340381, essv6429196, essv5834353, essv5804338, essv5821860, essv6084413, essv5602043, essv6253499, essv6238144, essv6080080, essv5662018, essv6467570, essv5955768, essv5626751, essv5863956, essv6183287, essv6163446, essv6022637, essv5445355, essv6579789, essv6367715, essv5573786, essv5619602, essv6284138, essv5875472, essv6219539, essv6388015, essv6548704, essv6122306, essv6377714, essv5997479, essv6243389, essv5866958, essv6438567, essv5994020, essv5805363, essv5904426, essv5773051, essv5895810, essv5670009, essv6384282, essv5697297, essv5941031, essv5484128, essv5404901, essv5448913, essv6396761, essv5509134, essv6085093, essv6401491, essv5661259, essv6230478, essv6134661, essv5534879, essv6488127, essv6088338, essv5466413, essv6382866, essv6237941, essv6221244, essv6570337, essv6256749, essv6240628, essv5985599, essv6347428, essv5490495, essv6050680, essv6033866, essv6364902, essv5940392, essv5610536, essv5708869, essv6102139, essv6572426, essv5874048, essv6171963, essv6237489
SamplesNA18502, NA19701, HG01173, HG01098, NA18924, NA19909, NA19204, NA18861, NA18508, HG01052, HG01079, NA18507, HG01188, HG01066, NA18917, HG00640, NA18486, NA20294, NA20346, NA19098, NA18870, NA20356, NA19920, NA19107, NA18519, NA18489, NA19119, NA19198, NA20317, NA19916, NA18916, NA19138, NA18498, NA20287, NA19130, NA18874, NA19137, NA20340, NA19235, NA19207, NA19172, NA19159, NA19901, NA19189, NA20342, NA19209, NA20127, NA18908, NA18867, NA19921, NA19908, NA19247, HG01171, NA19707, NA18934, NA19152, NA18516, NA18871, NA20344, NA18907, NA19114, NA20299, HG01197, NA18856, NA18853, NA19099, NA19257, NA19225, NA18523, NA19160, NA18858, NA19108, NA19256, NA18517, HG00734, NA19144, HG01108, NA20341, NA19818, NA18501, NA20348, NA19248, NA19223, HG01055, NA19093, NA19102, NA18873, NA19116, NA19213, NA19900, NA18505, NA19129, NA20322, NA18522, HG01191, NA18487, HG01061, NA19153
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676880
Frequency
Sample Size1151
Observed Gain0
Observed Loss98
Observed Complex0
Frequencyn/a


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