A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646192



Internal ID7032937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56441944..56443581hg38UCSC Ensembl
Innerchr20:56441947..56443579hg38UCSC Ensembl
Outerchr20:56441942..56443584hg38UCSC Ensembl
chr20:55017000..55018637hg19UCSC Ensembl
Innerchr20:55017003..55018635hg19UCSC Ensembl
Outerchr20:55016998..55018640hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16215978, essv16215938, essv16215965, essv16215941, essv16215967, essv16215960, essv16215932, essv16215986, essv16215954, essv16215969, essv16215939, essv16215948, essv16215968, essv16215942, essv16215977, essv16215970, essv16215943, essv16215944, essv16215953, essv16215976, essv16215951, essv16215966, essv16215961, essv16215972, essv16215947, essv16215981, essv16215971, essv16215957, essv16215962, essv16215973, essv16215934, essv16215980, essv16215949, essv16215964, essv16215940, essv16215959, essv16215979, essv16215956, essv16215946, essv16215958, essv16215963, essv16215983, essv16215936, essv16215950, essv16215982, essv16215975, essv16215955, essv16215984, essv16215931, essv16215945, essv16215933, essv16215937, essv16215935, essv16215952, essv16215974, essv16215985
SamplesHG02610, HG03548, HG03517, HG03449, NA18486, NA20294, NA19355, HG03455, NA19446, HG03485, NA19131, HG03578, NA19138, HG02922, NA19038, NA19922, NA19238, HG03195, HG02545, NA19445, HG03369, NA19451, HG03132, NA19175, NA19462, NA19455, NA18516, NA18915, HG03428, NA20126, HG02508, HG02968, HG01149, HG00740, NA18907, HG03136, HG03202, HG03397, NA19031, HG02666, NA19225, HG01990, NA19309, HG03461, HG02501, NA19019, HG03458, NA19428, HG01342, HG01556, NA19213, HG03401, HG02851, NA18511, NA18522, HG03439
Known GenesCASS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646192
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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