A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647090



Internal ID6687146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42717327..42718511hg38UCSC Ensembl
Innerchr21:42717357..42718481hg38UCSC Ensembl
Outerchr21:42717297..42718541hg38UCSC Ensembl
chr21:44137437..44138621hg19UCSC Ensembl
Innerchr21:44137467..44138591hg19UCSC Ensembl
Outerchr21:44137407..44138651hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381185
hg191185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16324934, essv16324919, essv16324926, essv16324953, essv16324969, essv16324978, essv16324948, essv16324935, essv16324945, essv16324923, essv16324954, essv16324950, essv16324941, essv16324937, essv16324965, essv16324910, essv16324966, essv16324920, essv16324977, essv16324929, essv16324932, essv16324930, essv16324958, essv16324946, essv16324927, essv16324936, essv16324963, essv16324911, essv16324967, essv16324957, essv16324943, essv16324956, essv16324942, essv16324940, essv16324928, essv16324914, essv16324974, essv16324918, essv16324938, essv16324947, essv16324922, essv16324915, essv16324921, essv16324925, essv16324975, essv16324944, essv16324939, essv16324968, essv16324912, essv16324971, essv16324960, essv16324913, essv16324972, essv16324949, essv16324931, essv16324976, essv16324961, essv16324962, essv16324951, essv16324964, essv16324933, essv16324955, essv16324970, essv16324917, essv16324916, essv16324924, essv16324952, essv16324959, essv16324973
SamplesHG01607, HG00380, NA11881, HG00157, HG03785, HG03861, NA11930, NA21125, HG02649, HG01284, NA20859, HG00234, NA07056, HG02450, HG04186, NA21130, NA21104, HG01708, HG01500, HG04001, HG03765, HG03229, NA20521, HG01682, HG03863, HG00244, NA20532, NA20896, HG02981, HG02684, HG04188, HG01392, HG00638, HG00130, HG01122, NA19792, NA20783, HG03681, HG04194, NA20762, HG03851, HG01628, HG01747, NA21102, HG03895, HG03869, HG03731, HG00159, HG00268, HG03919, HG04239, HG02787, NA20828, HG04134, HG01779, NA20911, HG00181, HG03875, NA20289, HG03872, NA21089, HG01886, HG03607, HG01164, HG01177, HG00641, HG03837, HG00327, HG01617
Known GenesPDE9A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647090
Frequency
Sample Size2504
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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