A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662201



Internal ID9581620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3321503..3321965hg38UCSC Ensembl
chr1:3238067..3238529hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5620017, essv5797750, essv6117936, essv6147593, essv5413984, essv6156319, essv6172970, essv5677945, essv6540045, essv6201031, essv6193777, essv5750981, essv5579548, essv6064507, essv6524346, essv6487762, essv5823120, essv6093751, essv5980277, essv6377111, essv5576041, essv5610976, essv6282849, essv5513919, essv6229789, essv5840751, essv6146874, essv5907889, essv5764376, essv6010527, essv5654746, essv6010041, essv5802014, essv5684629, essv5467613, essv6127966, essv5556253, essv5723965, essv6400750, essv5503928, essv5602859, essv6133019, essv5692928, essv5798711, essv5718955, essv5904874, essv6282709
SamplesNA19359, NA19092, NA18486, NA19377, NA20346, NA20507, NA19443, NA19920, NA18510, NA19374, NA19373, NA18519, NA19319, NA19382, NA19649, NA19313, NA19138, NA20287, NA19904, NA20291, NA18874, NA19372, NA19471, NA18520, NA20127, NA19455, NA18910, NA18907, HG01094, NA18853, NA19099, NA18523, NA19321, NA19108, NA19835, HG01108, NA19360, NA19818, NA19472, NA19093, NA19116, NA19711, NA19900, NA18488, NA20322, NA19431, NA19676
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662201
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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