A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619284



Internal ID7006162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2148997..2152023hg38UCSC Ensembl
Innerchr9:2149009..2152011hg38UCSC Ensembl
Outerchr9:2148985..2152035hg38UCSC Ensembl
chr9:2148997..2152023hg19UCSC Ensembl
Innerchr9:2149009..2152011hg19UCSC Ensembl
Outerchr9:2148985..2152035hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383027
hg193027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13378963, essv13378961, essv13378952, essv13378936, essv13378946, essv13378957, essv13378966, essv13378954, essv13378967, essv13378948, essv13378969, essv13378958, essv13378929, essv13378931, essv13378930, essv13378933, essv13378964, essv13378956, essv13378943, essv13378939, essv13378968, essv13378947, essv13378934, essv13378937, essv13378951, essv13378945, essv13378932, essv13378935, essv13378960, essv13378938, essv13378953, essv13378941, essv13378944, essv13378959, essv13378942, essv13378965, essv13378962, essv13378949, essv13378955, essv13378970, essv13378940, essv13378950
SamplesNA19701, HG00304, HG01054, HG01052, NA11920, NA11933, HG02798, HG00367, HG00364, NA20805, HG00737, HG00115, HG00327, HG00271, HG02756, HG03246, HG00185, HG00311, HG00281, HG03619, HG00325, NA20533, NA10847, HG02716, HG01248, NA20524, NA19403, HG01104, HG01088, NA20767, HG02494, HG01197, HG04189, HG00246, NA20773, HG04188, HG00119, NA19712, NA20803, HG00131, HG02643, HG00362
Known GenesSMARCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619284
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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