A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676680



Internal ID9596099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28557024..28557241hg38UCSC Ensembl
chr7:28596642..28596859hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6292132, essv5945150, essv6379134, essv5516901, essv6464001, essv5805865, essv6587030, essv5494099, essv5787774, essv5455255, essv5634042, essv6082848, essv6585303, essv5582226, essv6518082, essv6000477, essv5880090, essv6559853, essv6483284, essv6508335, essv6351585, essv6462456, essv6095611, essv6337633, essv6558227, essv5784567, essv6091753, essv6111262, essv5846952, essv6283482, essv6398038, essv6111536, essv6016108, essv6373834, essv6274010, essv5926465, essv5433017, essv6563054, essv6191505, essv5434064, essv6586190, essv6119723, essv5456528, essv5570982, essv6231966, essv6552038, essv6319124, essv5727782, essv6076036, essv6467855, essv6186541, essv6429266, essv5658652, essv6533017, essv6126035, essv5967046, essv5762221, essv6051291, essv5625885, essv5611051, essv5691765, essv6165630, essv5713542, essv5565854, essv6338476, essv5618158, essv5929937, essv5398196, essv6594305, essv5428028, essv5510659, essv6383352, essv6062622, essv6368134, essv6035719, essv5721922, essv5944807, essv5712823, essv6501613, essv6244247, essv5675522, essv5854461, essv5494740, essv5944949, essv5428673, essv6426629, essv6360687
SamplesHG01441, NA11830, NA18508, NA12414, NA18507, NA11931, NA12045, HG00367, NA19819, NA12004, NA20805, NA19777, NA18504, NA12058, NA20517, NA18870, HG00261, HG01140, NA12413, NA19319, NA18923, NA19198, NA12891, NA11992, NA11918, HG00346, NA18571, HG01083, HG00148, NA12156, HG00325, NA19137, NA11994, HG00159, NA12828, NA19445, HG00260, HG00154, NA12489, HG01187, NA19403, NA19462, NA12878, NA18933, NA19455, NA19658, NA18871, NA12234, NA18537, NA18566, HG01073, NA19114, HG00250, NA12829, NA18499, HG00321, NA18853, HG00276, HG00146, NA12778, NA12043, HG00258, HG00124, NA20773, NA19440, NA12716, NA18909, NA11881, NA19834, HG00734, NA19144, NA19360, NA07037, NA06994, NA19248, NA19438, NA12749, HG00342, NA19093, NA18873, NA18552, HG00252, NA11892, NA19312, NA12006, NA07000, NA18577
Known GenesCREB5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676680
Frequency
Sample Size1151
Observed Gain0
Observed Loss87
Observed Complex0
Frequencyn/a


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