A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672426



Internal ID9938531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:141501047..141501422hg38UCSC Ensembl
chr4:142422200..142422575hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6594754, essv6005316, essv5711084, essv6536896, essv5859039, essv5899390, essv6110149, essv6045273, essv6002755, essv6341533, essv5764042, essv5524710, essv6156945, essv6055180, essv5876349, essv5965410, essv5506169, essv5705799, essv5735053, essv6108942, essv5618706, essv5422248, essv6451760, essv5572161, essv5603963, essv6176267, essv5731810, essv5710488, essv5470934, essv5739120, essv6167272, essv6349990, essv5585198, essv6450806, essv6109752, essv5688045, essv5449418, essv6590930, essv5641013, essv6394974, essv6533938, essv5508017, essv5486288, essv6084327, essv6296936, essv5876969, essv5988500, essv5838170, essv6356750, essv6292235, essv5934070, essv6071006, essv5490100, essv6582740, essv5526492, essv5585606, essv5627554, essv5864615, essv5716719, essv5583909, essv6198187, essv6519906
SamplesNA18502, NA19703, NA19909, NA18861, NA18508, NA19399, NA19332, NA19359, NA18486, NA20294, NA19819, NA20332, NA18489, NA18916, NA19197, HG01354, HG01083, NA19904, NA19404, HG01170, NA19137, NA19238, NA19189, NA19239, NA18908, NA19451, NA18934, NA19462, NA19347, NA19391, NA19327, NA19236, NA18907, NA19114, NA20299, NA18499, NA18853, NA19318, HG01107, NA19440, NA19147, NA18517, NA19712, NA19434, NA19473, NA19435, NA19331, NA19240, NA19334, NA19439, NA20281, NA19779, NA19474, NA19093, NA20289, HG00131, NA19116, NA18505, NA19129, NA18511, NA18522, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672426
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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